Judith Goslin Hall

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Judith Goslin Hall

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#922

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#1199

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#247

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Philosophy

Why Is Judith Goslin Hall Influential?

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According to Wikipedia, Judith Goslin Hall is a pediatrician, clinical geneticist and dysmorphologist who is a dual citizen of the United States and Canada. Early life and education The daughter of a minister, Judith Goslin Hall was born on July 3, 1939, in Boston, Massachusetts. She graduated from Garfield High School in Seattle and then attended Wellesley College in Wellesley, Mass. from which she earned her Bachelor of Arts degree in 1961.

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Judith Goslin Hall's Published Works

Number of citations in a given year to any of this author's works

Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

Maternal and fetal sequelae of anticoagulation during pregnancy. (1980) (760)
Developmental Juvenile Osteology (2000) (725)
International Nosology of Heritable Disorders of Connective Tissue, Berlin, 1986. (1988) (703)
Nosology and Classification of Genetic Skeletal Disorders: 2010 Revision (2011) (665)
Genomic imprinting: review and relevance to human diseases. (1990) (645)
Nosology and classification of genetic skeletal disorders: 2015 revision (2015) (488)
Human Malformations and Related Anomalies (2006) (369)
Nosology and classification of genetic skeletal disorders: 2019 revision (2019) (369)
Review and hypotheses: somatic mosaicism: observations related to clinical genetics. (1988) (336)
Errors of morphogenesis: concepts and terms. Recommendations of an international working group. (1982) (328)
Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus and postaxial polydactyly--a new syndrome? Part I: clinical, causal, and pathogenetic considerations. (1980) (315)
Developmental juvenile osteology.: By L. Scheuer and S. Black. Pp 587. San Diego: Academic Press, 2000. ISBN: 0-12-624000-0. £159.95. (2001) (289)
Arthrogryposis multiplex congenita: etiology, genetics, classification, diagnostic approach, and general aspects. (1997) (280)
THROMBOCYTOPENIA WITH ABSENT RADIUS (TAR) (1969) (258)
The distal arthrogryposes: delineation of new entities--review and nosologic discussion. (1982) (242)
Standard growth curves for achondroplasia. (1978) (241)
Assessment of neurocognitive impairment after off-pump and on-pump techniques for coronary artery bypass graft surgery: prospective randomised controlled trial (2002) (236)
Noonan syndrome: the changing phenotype. (1985) (227)
A clinical and genetic study of campomelic dysplasia. (1995) (227)
Chromosome maps of man and mouse. IV (1989) (207)
Twinning (2003) (206)
Health Supervision for Children With Achondroplasia (1995) (199)
Arthrogryposis (multiple congenital contractures): diagnostic approach to etiology, classification, genetics, and general principles. (2014) (198)
Handbook of Normal Physical Measurements (1989) (195)
International nosology and classification of constitutional disorders of bone (2001). (2002) (193)
X-linked cutis laxa: defective cross-link formation in collagen due to decreased lysyl oxidase activity. (1980) (191)
Effect of a standard exercise protocol on shoulder pain in long-term wheelchair users (1999) (186)
Klinefelter syndrome: Expanding the phenotype and identifying new research directions (2003) (177)
Handbook of Physical Measurements (2006) (176)
Apnea and sudden unexpected death in infants with achondroplasia. (1984) (171)
Analysis of Pena Shokeir phenotype. (1986) (168)
Part I. Amyoplasia: a common, sporadic condition with congenital contractures. (1983) (157)
Turner syndrome and its variants. (1990) (154)
Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. (2014) (153)
Limb pterygium syndromes: a review and report of eleven patients. (1982) (151)
Majewski osteodysplastic primordial dwarfism type II (MOPD II): Natural history and clinical findings (2004) (147)
Clinical, genetic, and epidemiological factors in neural tube defects. (1988) (142)
Guidelines for human gene nomenclature. An international system for human gene nomenclature (ISGN, 1987). (1987) (138)
Arthrogryposis multiplex congenita (amyoplasia): an orthopaedic perspective. (2007) (131)
Lymphedema in Noonan syndrome: Clues to pathogenesis and prenatal diagnosis and review of the literature (1987) (130)
Genetic aspects of arthrogryposis. (1985) (127)
Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1 (2006) (126)
International nomenclature and classification of the osteochondrodysplasias (1997) international working group on constitutional diseases of bone (1998) (125)
Achondroplasia—a genetic and statistical survey (1970) (123)
Multiple congenital anomalies associated with oral anticoagulants. (1977) (120)
Bone marrow transplantation for Maroteaux–Lamy syndrome (MPS VI): Long-term follow-up (1999) (119)
Amyoplasia, the most common type of arthrogryposis: the potential for good outcome. (1996) (116)
Down syndrome (trisomy 21) (2005) (116)
Dominantly inherited renal adysplasia. (1987) (113)
Osteogenesis imperfecta type II delineation of the phenotype with reference to genetic heterogeneity. (1984) (110)
Noonan phenotype associated with neurofibromatosis. (1985) (110)
Chondrodysplasia punctata and maternal warfarin use during pregnancy. (1975) (108)
Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly--a new syndrome? Part II: Neuropathological considerations. (1980) (107)
Client-centred assessment and the identification of meaningful treatment goals for individuals with a spinal cord injury (2004) (107)
Atlas of Skeletal Dysplasias (1986) (105)
A pattern of craniofacial and limb defects secondary to aberrant tissue bands. (1974) (105)
The phenotype of survivors of campomelic dysplasia (2002) (102)
The frequency and financial burden of genetic disease in a pediatric hospital. (1978) (102)
Pena-Shokeir phenotype (fetal akinesia deformation sequence) revisited. (2009) (101)
Pseudoachondroplasia and Multiple Epiphyseal Dysplasia: A 7-Year Comprehensive Analysis of the Known Disease Genes Identify Novel and Recurrent Mutations and Provides an Accurate Assessment of Their Relative Contribution (2011) (101)
Elements of morphology: General terms for congenital anomalies (2013) (101)
Achondroplasia (2007) (99)
Prevalence of multiple congenital contractures including arthrogryposis multiplex congenita in Alberta, Canada, and a strategy for classification and coding. (2010) (97)
Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype (2014) (97)
Twinning: mechanisms and genetic implications. (1996) (97)
The lethal multiple pterygium syndromes. (1984) (96)
Deletions in HOXD13 segregate with an identical, novel foot malformation in two unrelated families. (1998) (95)
Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis. (1997) (95)
Growth curves for height in Noonan syndrome (1986) (94)
Thanatophoric dysplasia and cloverleaf skull. (1987) (93)
Chondrodysplasia punctata: a clinical diagnostic and radiological review (2008) (91)
Three-generation dominant transmission of the Silver-Russell syndrome. (1990) (91)
Constitutional deletion of chromosome 20q in two patients affected with albright hereditary osteodystrophy. (2002) (90)
Prenatal diagnosis of congenital bullous ichthyosiform erythroderma (epidermolytic hyperkeratosis) by fetal skin biopsy. (1980) (87)
The femoral hypoplasia-unusual facies syndrome. (1984) (85)
A mutation in TGFB3 associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with marfan and loeys–dietz syndrome (2013) (84)
Thrombocytopenia and absent radius (TAR) syndrome. (1987) (81)
Amyoplasia revisited (2014) (78)
Elements of morphology: Standard terminology for the nose and philtrum (2009) (78)
Significance of phenotypic and chromosomal abnormalities in X-linked mental retardation (Martin-Bell or Renpenning syndrome). (1980) (78)
Bleeding diathesis in Noonan syndrome: a common association. (1988) (76)
Recurrence risks and prognosis in severe sporadic osteogenesis imperfecta. (1987) (76)
Oxford Desk Reference Clinical Genetics (2005) (76)
Spectrum of Craniosynostosis Phenotypes Associated with Novel Mutations at the Fibroblast Growth Factor Receptor 2 Locus (1996) (76)
Growth curves for height for diastrophic dysplasia, spondyloepiphyseal dysplasia congenita, and pseudoachondroplasia. (1982) (75)
A meeting of minds: interdisciplinary research in the health sciences in Canada (2006) (75)
Abnormal skin fibroblast cytogenetics in four dysmorphic patients with normal lymphocyte chromosomes. (1979) (73)
Hydrocephalus, agyria, retinal dysplasia, encephalocele (HARD +/- E) syndrome: an autosomal recessive condition. (1978) (70)
Multiple pterygium syndrome: evolution of the phenotype. (1987) (70)
Gardner syndrome and periampullary malignancy. (1980) (68)
Recommendations for Diagnosis, Treatment, and Management of Individuals with Turner Syndrome (1994) (68)
Genomic imprinting: nature and clinical relevance. (1997) (67)
Association of amyoplasia with gastroschisis, bowel atresia, and defects of the muscular layer of the trunk. (1986) (67)
Nonimmune hydrops fetalis. (1987) (67)
Molecular nosology of heritable disorders of connective tissue. (1992) (66)
The phenotypic variability of diastrophic dysplasia. (1978) (63)
Part II. Amyoplasia: twinning in amyoplasia--a specific type of arthrogryposis with an apparent excess of discordantly affected identical twins. (1983) (63)
POSSIBLE MATERNAL EFFECT ON SEVERITY OF NEUROFIBROMATOSIS (1978) (63)
PHACE Syndrome: Current Knowledge, Future Directions (2009) (61)
Twins and twinning. (1996) (61)
Congenital diaphragmatic hernia, coarse facies, and acral hypoplasia: Fryns syndrome. (1989) (60)
Intussusception and intestinal malrotation in infants: Waugh's syndrome (1986) (60)
Diagnostic dilemmas in the short rib-polydactyly syndrome group. (2002) (59)
Diabetes mellitus and sexual ateliotic dwarfism: a comparative study. (1970) (59)
Recommendations of an International Working Group (1982) (58)
Mouse homologues of human hereditary disease. (1994) (58)
Gonadal mosaicism in pseudoachondroplasia. (1987) (58)
Obstetric and Gynecologic Problems in Women With Chondrodystrophies (1986) (57)
Congenital abnormalities reported in Pelger-Huët homozygosity as compared to Greenberg/HEM dysplasia: highly variable expression of allelic phenotypes (2003) (57)
More on marker X chromosomes, mental retardation and macro-orchidism. (1979) (57)
Advances in Human Genetics (1990) (56)
A randomized, controlled dose‐ranging study of risedronate in children with moderate and severe osteogenesis imperfecta (2010) (56)
Genomic imprinting, monozygous twinning, and X inactivation (1991) (54)
Failure to identify antenatal multiple congenital contractures and fetal akinesia – proposal of guidelines to improve diagnosis (2013) (54)
Albright's hereditary osteodystrophy and pseudohypoparathyroidism. (2002) (53)
The natural history of achondroplasia. (1988) (51)
Radiological diagnosis of the constitutional disorders of bone. As easy as A, B, C? (2003) (51)
Neuropathologic findings in the spinal cords of 10 infants with arthrogryposis (1983) (50)
Pseudoachondroplasia: clinical diagnosis at different ages and comparison of autosomal dominant and recessive types. A review of 32 patients (26 kindreds). (1986) (49)
Genetic Disorders Associated with Macrocephaly (2009) (48)
Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome. (2017) (48)
Orofaciodigital syndrome with mesomelic limb shortening. (1984) (47)
Arthrogryposis as a Syndrome: Gene Ontology Analysis (2016) (47)
The range of visceral manifestations of non-accidental injury (1997) (46)
The Holt-Oram syndrome. (1991) (45)
Osteogenesis imperfecta type IIA: evidence for dominant inheritance. (1987) (44)
A retrospective study of pregnancy complications among 828 cases of arthrogryposis. (1990) (44)
Three distinct types of X‐linked arthrogryposis seen in 6 families (1982) (43)
Teratogens associated with congenital contractures in humans and in animals. (1982) (42)
Clinical phenotype of lathosterolosis (2007) (42)
Genomic imprinting and its clinical implications. (1992) (41)
The 3-M syndrome. (1984) (40)
Thrombocytopenia with absent radius. (1977) (40)
See One, Do One, Teach One (1999) (40)
Medial-approach open reduction of hip dislocation in amyoplasia-type arthrogryposis. (1996) (40)
Body wall defects with reduction limb anomalies: a report of fifteen cases. (1979) (40)
Familial insertional translocation of a portion of 3q into 11q resulting in duplication and deletion of region 3q22.1 leads to q24 in different offspring. (1981) (39)
Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance (2012) (39)
Novel pathogenic variants and genes for myopathies identified by whole exome sequencing (2015) (39)
Comments on the Neu-Laxova syndrome and CAD complex. (1981) (39)
A metabolic and hormonal basis for classifying ateliotic dwarfs. (1969) (39)
Costochondral junction fractures and intra-abdominal trauma in non-accidental injury (child abuse) (1998) (39)
The Weissenbacher-Zweymüller, Stickler, and Marshall syndromes: further evidence for their identity. (1983) (39)
The Baller-Gerold syndrome: phenotypic and cytogenetic overlap with Roberts syndrome. (1990) (38)
Capillary basement membrane structure: a comparative study of diabetics and sexual ateliotic dwarfs. (1970) (38)
Cervical Spine in Pfeiffer's Syndrome (1996) (38)
International multidisciplinary collaboration toward an annotated definition of arthrogryposis multiplex congenita (2019) (37)
Observational study of skeletal surveys in suspected non-accidental injury. (2003) (37)
Ambulatory Activity in Youth With Arthrogryposis: A Cohort Study (2009) (37)
Drainage Following Radical Hysterectomy and Pelvic Lymphadenectomy: Dogma or Need? (1995) (37)
The femoral hypoplasia-unusual facies syndrome. (1984) (37)
How imprinting is relevant to human disease. (1990) (37)
ABNORMALITIES OF CORPUS CALLOSUM IN PATIENTS WITH INHERITED METABOLIC DISEASES (1988) (37)
Apparent postnatal onset of some manifestations of the Wiedemann-Beckwith syndrome. (1990) (37)
Familial essential ("benign") chorea. (1976) (36)
Poland anomaly—report of an unusual family (2003) (36)
A clinician's plea (2003) (36)
Wolcott‐Rallison syndrome (1995) (35)
An X-linked form of cutis laxa due to deficiency of lysyl oxidase. (1976) (35)
The Jeune syndrome (asphyxiating thoracic dystrophy) in an adult. (1975) (34)
Sagittal plane compensations for artificially induced limitation of the first metatarsophalangeal joint: a preliminary study. (2004) (34)
Familial breast cancer in males: A case report and review of the literature (1986) (33)
A recessive form of congenital contractures and torticollis associated with malignant hyperthermia. (1988) (33)
An unusual variety of endocrine dwarfism: subresponsiveness to growth hormone in a sexually mature dwarf. (1968) (33)
GENETICS OF TUBEROUS SCLEROSIS (1987) (33)
Sacral dysgenesis associated with terminal deletion of chromosome 7q: a report of two families (1999) (33)
Mosaicism in pseudoachondroplasia. (1997) (33)
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome versus juvenile idiopathic arthropathy. (2005) (33)
Achondroplasia: unexpected familial recurrence. (1984) (33)
Rothmund-Thomson syndrome with severe dwarfism. (1980) (33)
Patterns of cancer (2005) (32)
Amniotic fluid cell mosaicism for presumptive trisomy 20 (1978) (32)
A distinct form of spondyloepimetaphyseal dysplasia with multiple dislocations. (1998) (32)
Gender and Generational Influences on the Pediatric Workforce and Practice (2014) (32)
Maternal systemic lupus erythematosus and chondrodysplasia punctata in two sibs: phenocopy or coincidence? (1998) (32)
Dominant distal arthrogryposis in a Maori family with marked variability of expression. (1995) (31)
Exposure to ovarian steroids elicits a female pattern of plasma cortisol levels in castrated male macaques (1992) (31)
Paternal uniparental disomy 14: introducing the 'coat-hanger' sign (2003) (31)
Gene ontology analysis of arthrogryposis (multiple congenital contractures) (2019) (31)
Acromesomelic dwarfism: manifestations in childhood. (1977) (30)
An approach to congenital contractures (arthrogryposis). (1981) (30)
Kyphosis in achondroplasia: probably preventable. (1988) (30)
Three patients with the osteochondrodysplasia and hypertrichosis syndrome--Cantu syndrome. (1998) (30)
Microtia and short stature: a new syndrome. (1991) (30)
Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity. (2011) (30)
A new form of autosomal dominant arthrogryposis. (1991) (29)
Joubert's syndrome associated with congenital ocular fibrosis and histidinemia. (1989) (29)
Folate and its various ramifications. (1998) (29)
Non-accidental injury or brittle bones (1997) (29)
Cranio-carpo-tarsal dysplasia. A report of seven cases. (1977) (29)
The feet in Apert's syndrome. (1999) (29)
Review and hypothesis: Syndromes with severe intrauterine growth restriction and very short stature—Are they related to the epigenetic mechanism(s) of fetal survival involved in the developmental origins of adult health and disease? (2010) (28)
Oxidative energy deficiency. II. Human achondroplasia (1973) (28)
Encephalocraniocutaneous lipomatosis. Report of two cases and a review of the literature. (1989) (28)
Vitamin A: a newly recognized human teratogen. Harbinger of things to come? (1984) (28)
Clinical neurogenetics (1977) (28)
Arthrogryposis associated with unsuccessful attempts at termination of pregnancy. (1996) (27)
Posterolateral (Bochdalek's) diaphragmatic hernia in sisters. (1979) (27)
The adaptation of enzymes to temperature: catalytic characterization of glucosephosphate isomerase homologues isolated from Mytilus edulis and Isognomon alatus, bivalve molluscs inhabiting different thermal environments. (1985) (27)
Greenberg dysplasia (HEM) and lethal X linked dominant Conradi-Hünermann chondrodysplasia punctata (CDPX2): presentation of two cases with overlapping phenotype (2003) (27)
Deletion of chromosome 21 and normal intelligence: molecular definition of the lesion (1991) (27)
Arthrogryposis, ophthalmoplegia, and retinopathy: confirmation of a new type of arthrogryposis. (1993) (27)
Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia (2007) (27)
Long‐term functional and mobility outcomes for individuals with arthrogryposis multiplex congenita (2017) (27)
NEURAL TUBE DEFECTS, SEX RATIOS, AND X INACTIVATTON (1986) (26)
ACHOO syndrome (autosomal dominant compelling helio-ophthalmic outburst syndrome). (1978) (26)
Impact of an open-chest extracorporeal membrane oxygenation model for in situ simulated team training: a pilot study. (2014) (26)
Familial bilateral antecubital pterygia with severe renal involvement in nail‐patella syndrome (1993) (26)
Clinical phenotype associated with homozygosity for a HOXD13 7-residue polyalanine tract expansion. (2006) (25)
The cervical spine in Saethre-Chotzen syndrome. (1997) (25)
Arthrogryposes (Multiple Congenital Contractures) (2014) (25)
Inbreeding and population dynamics of the Chillingham cattle (Bos taurus) (1988) (25)
Dysosteosclerosis: a report of three new cases and evolution of the radiological findings (2002) (25)
Surviving campomelic dysplasia has the radiological features of the previously reported ischio-pubic-patella syndrome (2002) (25)
Congenital cervical spinal fusion: a study in Apert syndrome. (1996) (25)
Prenatal genetic diagnosis and elective abortion in women over 35: utilization and relative impact on the birth prevalence of Down syndrome in Washington State. (1980) (24)
Classification of arthrogryposis (2019) (24)
Chromosomal abnormalities associated with congenital contractures (arthrogryposis) (1985) (24)
Ultrastructural anatomic observations of the ureter in the prune belly syndrome. (1977) (24)
Long‐term follow‐up of three individuals with Kabuki syndrome (2004) (24)
Yunis-Varon syndrome with severe osteodysplasty. (1990) (24)
The Elbow in Syndromic Craniosynostosis (1998) (24)
Sonographic diagnosis of SEDC and double heterozygote of SEDC and achondroplasia—a report of six pregnancies (2006) (24)
Prometaphase chromosomes in five patients with the Brachmann-de Lange syndrome. (1981) (23)
Posterior urethral diverticula: a complication of surgery for high anorectal malformations (2005) (23)
A new autosomal recessive syndrome of characteristic facies, joint contractures, skeletal abnormalities, and normal development: second report with further clinical delineation (1995) (23)
Partial deletion of the short arm of chromosome 3 (3p25 → 3pter) Further delineation of the clinical phenotype (1985) (23)
Importance of Muscle Movement for Normal Craniofacial Development (2010) (22)
Current results of surgery for achalasia of the cardia. (1993) (22)
Conditional overdominance at an alcohol dehydrogenase locus in yeast. (1987) (22)
Gastro‐oesophageal reflux and intestinal malrotation in children (1988) (22)
Serpentine fibula syndrome: expansion of the phenotype with three affected siblings. (1996) (22)
The Stickler syndrome presenting as a dominantly inherited cleft palate and blindness. (1975) (22)
Increased first‐trimester fetal nuchal translucency thickness in association with chondroectodermal dysplasia (Ellis–Van Creveld syndrome) (2005) (22)
The Challenge of Developing Career Pathways for Senior Academic Pediatricians (2005) (22)
Normal male carriers in the fra(X) form of X-linked mental retardation (Martin-Bell syndrome). (1986) (22)
Another adult with Meier‐Gorlin syndrome ‐ insights into the natural history (2003) (22)
Symmetrical enchondromatosis is associated with duplication of 12p11.23 to 12p11.22 including PTHLH (2010) (22)
Acroscyphodysplasia as a phenotypic variation of pseudohypoparathyroidism and acrodysostosis type 2 (2014) (21)
Hand anomalies in Crouzon syndrome (1997) (21)
Respiratory and cardiovascular systems (1986) (21)
Isolated congenital ectopia lentis with autosomal dominant inheritance (1979) (21)
Autosomal dominant inheritance of endocardial cushion defect. (1977) (20)
Fetal arthrogryposis: Challenges and perspectives for prenatal detection and management (2019) (20)
Congenital rubella syndrome associated with calcific epiphyseal stippling and peroxisomal dysfunction. (1990) (20)
Mesenchymal hamartoma of the chest wall in infancy. (1991) (20)
Microphallus, growth hormone deficiency, and hypoglycemia in Russell-Silver syndrome. (1978) (20)
A lethal neonatal dwarfing condition with short ribs, polysyndactyly, cranial synostosis, cleft palate cardiovascular and urogenital anomalies and severe ossification defect. (1977) (20)
Epidermoid cyst of the spleen: a case report and review of the literature. (1990) (20)
Skeletal injuries associated with sexual abuse (2004) (19)
The 2p partial trisomy syndrome. (1977) (19)
The role of patient advocacy/parent support groups. (2013) (19)
Chromosome 7 short arm deletion and craniosynostosis a 7p-syndrome (1976) (19)
Lip pits, cleft lip and/or palate, and congenital heart disease. (1980) (19)
Folic acid: the opportunity that still exists (2000) (19)
Subacromial balloon spacer for irreparable rotator cuff tears of the shoulder (START:REACTS): a group-sequential, double-blind, multicentre randomised controlled trial (2022) (19)
Embryologic development and monozygotic twinning. (1996) (19)
Genetics and Classifications. (2017) (19)
Lethal short-rib polydactyly syndrome of the Majewski type: a report of three cases. (1982) (18)
Review of X‐linked syndromes with arthrogryposis or early contractures—aid to diagnosis and pathway identification (2015) (18)
Infantile fibrosarcoma: radiological and clinical features (1994) (18)
The Vital Force ; A Study of Bioenergetics (2010) (18)
Microcephalic osteodysplastic primordial short stature type II with café‐au‐lait spots and moyamoya disease: Another patient (2004) (18)
A new arthrogryposis syndrome with facial and limb anomalies. (1975) (17)
Balloon catheter dilatation of oesophageal strictures in children. (1984) (17)
Uterine structural anomalies and arthrogryposis—death of an urban legend (2013) (17)
Neural tube defects in British Columbia (1994) (17)
Lower limb anomalies in the thrombocytopenia absent-radius (TAR) syndrome. (1980) (17)
Pallister–Hall syndrome has gone the way of modern medical genetics (2014) (17)
Imaging of non-accidental injury (2003) (17)
The impact of birth defects and genetic diseases. (1997) (17)
A new lethal sclerosing bone dysplasia (1991) (17)
Amyoplasia involving only the upper limbs or only involving the lower limbs with review of the relevant differential diagnoses (2014) (17)
Oligohydramnios sequence revisited in relationship to arthrogryposis, with distinctive skin changes (2014) (16)
The autosomal dominant syndrome with congenital stapes ankylosis, broad thumbs and hyperopia. (1997) (16)
Recurrent constellations of embryonic malformations re‐conceptualized as an overlapping group of disorders with shared pathogenesis (2020) (16)
New syndrome of chronic mucocutaneous candidiasis. (1977) (16)
Clinical and radiological findings in Schinzel–Giedion syndrome (2008) (16)
The feet in Pfeiffer's syndrome. (1998) (16)
Juvenile galactosialidosis in a white male: a new variant. (1988) (15)
Variable expression in a dominantly inherited skeletal dysplasia with similarities to brachydactyly E and spondyloepiphyseal‐ spondyloperipheral dysplasia (1979) (15)
The radiological features of Goltz syndrome: Focal dermal hypoplasia (1988) (15)
The hands in Saethre-Chotzen syndrome. (1996) (15)
Small structural changes of chromosome 8 (1977) (15)
Genomic imprinting: summary of an NICHD conference. (1993) (15)
Nosologic Grouping in Birth Defects (1987) (15)
Syndrome of mental retardation, facial anomalies, hypopituitarism, and distal arthrogryposis in sibs. (1990) (15)
Temporal aspects in craniometaphyseal dysplasia: autosomal recessive type. (1998) (15)
Diagnostic accuracy of fracture detection in suspected non-accidental injury: the effect of edge enhancement and digital display on observer performance. (2006) (15)
Genetics of neural tube defects (1998) (14)
Two unusual cases of nephrocalcinosis in infancy (2005) (14)
Multifactorial inheritance of non‐syndromic macrocephaly (1996) (14)
Risks of anticoagulation during pregnancy. (1980) (14)
Spondyloepimetaphyseal dysplasia with multiple dislocations (Hall type): three further cases and evidence of autosomal dominant inheritance (2002) (14)
Warfarin and Fetal Abnormality: Reply (1976) (14)
Mesomelic limb shortness: a previously unreported autosomal recessive type. (1993) (13)
The feet in Crouzon syndrome. (1997) (13)
Sarcoidosis of the eyelid skin. (1995) (13)
Coarctation of the aorta in male cousins with similar maternal environmental exposure to insect repellent and insecticides. (1975) (13)
Nontraditional inheritance. (1992) (13)
Congenital abnormalities in two sibs exposed to valproic acid in utero. (1988) (13)
Stickler syndrome. Presenting as a syndrome of cleft palate, myopia and blindness inherited as a dominant trait. (1974) (13)
Perinatal and first year follow‐up of patients with Prader‐Willi syndrome: normal size of hands and feet (1989) (13)
The diagnostic workup in a patient with AMC: Overview of the clinical evaluation and paraclinical analyses with review of the literature (2019) (13)
22q11 deletion syndrome (2005) (13)
Evaluation of the Commission of the European Communities quality criteria for the paediatric lateral spine. (2003) (13)
Type 1 collagenopathy presenting with a Russell–Silver phenotype (2011) (13)
Sex chromosome mosaicism (2005) (13)
Juvenile hyaline fibromatosis. (1981) (12)
The use of radiographic visualization for prenatal diagnosis. (1977) (12)
The early history of Pallister-Hall syndrome-Buried treasure of a sort. (2016) (12)
Arthrogryposis (multiple congenital contractures) associated with failed termination of pregnancy (2012) (12)
Tibial aplasia, lower extremity mirror image polydactyly, brachyphalangy, craniofacial dysmorphism and genital hypoplasia: further delineation and mutational analysis (2004) (12)
Clinical signs in deep‐vein thrombosis (1971) (12)
Kantaputra mesomelic dysplasia: A second reported family (2004) (12)
An atypical case suggesting the possibility of overlap between Malpuech and Juberg-Hayward syndromes. (2001) (12)
DETECTING MATERNAL CELL CONTAMINATION IN PRENATAL DIAGNOSIS (1989) (12)
Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis (2015) (12)
No evidence for chromosomal mosaicism in multiple tissues of 10 patients with 45 XO Turner syndrome (1979) (11)
Growth analysis in clinical genetics. (1985) (11)
Neurofibromatosis I: predicting the relation of gene structure to gene function. (1991) (11)
Central osteosclerosis with trichothiodystrophy (2004) (11)
The pathogenesis of spontaneously occurring anomalies of the ventricular outflow tract in Keeshond dogs: embryologic studies. (1978) (11)
Sibs with mental retardation, supraorbital sclerosis, and metaphyseal dysplasia: frontometaphyseal dysplasia, craniometaphyseal dysplasia, or a new syndrome? (1991) (11)
Autosomal dominant asymmetrical radial dysplasia, dysmorphic facies, and conductive hearing loss (facioauriculoradial dysplasia) (1982) (11)
Central nervous system involvement in arthrogryposis multiplex congenita: Overview of causes, diagnosis, and care (2019) (11)
WARFARIN EMBRYOPATHY (1979) (11)
Association between age of onset and parental inheritance in Huntington chorea. (1983) (11)
Hirschsprung's disease and malrotation of the mid-gut. An uncommon association. (1982) (11)
The value of the study of natural history in genetic disorders and congenital anomaly syndromes. (1988) (11)
Individual conditions grouped according to the international nosology and classification of genetic skeletal disorders (2012) (11)
Familial asymmetric crying facies. Its occurrence secondary to hypoplasia of the anguli oris depressor muscles. (1979) (11)
Fetal and Perinatal Skeletal Dysplasias: an Atlas of Multimodality Imaging (2012) (11)
Clinical course and systemic correlates of retinopathy of prematurity in quintuplets. (1995) (11)
Growth curves in achondroplasia. (1977) (11)
Embryopathy associated with oral anticoagulant therapy. (1976) (11)
Fetal akinesia deformation sequence: Expanding the phenotypic spectrum (2014) (11)
Summary of the 3rd international symposium on arthrogryposis (2019) (10)
Human diseases and genomic imprinting. (1999) (10)
Radical cystectomy for stage T3b bladder cancer. (1996) (10)
Failure to early prenatal diagnosis in classic achondroplasia. (1979) (10)
Vitamin A teratogenicity. (1984) (10)
Summary of the 2nd international symposium on arthrogryposis, St. Petersburg, Russia, September 17‐19, 2014 (2015) (10)
The radiologic diagnosis of skeletal dysplasias: past, present and future (2020) (10)
Familial multiple exostoses--no chromosome 8 deletion observed. (1985) (10)
Unilateral disomy as a possible explanation for Russell-Silver syndrome. (1990) (10)
Sanfilippo syndrome. (2019) (10)
A new syndrome of spondyloepimetaphyseal dysplasia, eczema and hypogammaglobulinaemia. (1999) (9)
Cranio-osteoarthropathy in sibs. (2007) (9)
Congenital cardiac disease as a core feature of cranio-osteoarthropathy (2004) (9)
Clinical Indicators for (2007) (9)
Development of a research platform for children with arthrogryposis multiplex congenita: study protocol for a pilot registry (2018) (9)
Spondylometaphyseal dysplasia-Sedaghatian type. (1998) (9)
Metatropic dysplasia lethal variants (2004) (9)
A sibship with Roberts/SC phocomelia syndrome. (1990) (9)
Don't use the term "amyoplasia" loosely. (2002) (9)
Further delineation of spondylometaphyseal dysplasia with cone‐rod dystrophy (2008) (9)
Special section. Syndrome‐specific growth charts (2012) (9)
Individualized medicine. What the genetic revolution will bring to health care in the 21st century. (2003) (9)
Terathanasia, folic acid, and birth defects (1997) (9)
Craniometadiaphyseal dysplasia, wormian bone type. (1998) (9)
Diagnostic considerations in arthrogry‐posis syndromes in South Africa (1984) (9)
We are failing to identify disorders of fetal movement – why? (2012) (9)
Prenatal diagnosis of genetic osteochondrodysplasias. (1983) (8)
Research platform for children with arthrogryposis multiplex congenita: Findings from the pilot registry (2019) (8)
Apert's acrocephalosyndactyly in mother and daughter: cleft palate in the mother. (1971) (8)
In utero movement and use of limbs are necessary for normal growth: a study of individuals with arthrogryposis. (1985) (8)
Lethal acrofacial dysostosis, pre- and post-axial defects of the hands, and bilateral renal agenesis. (2002) (8)
Workshop report: evaluation of genetic and epigenetic risks associated with assisted reproductive technologies and infertility. (2007) (8)
Use of genetic counselling services for neural tube defects. (1987) (8)
The radiographic prenatal diagnosis of the generalized bone dysplasias and other skeletal abnormalities. (1979) (8)
New autosomal dominant form of spondyloepiphyseal dysplasia presenting with atlanto-axial instability. (1994) (8)
U-P-what? (1999) (8)
Summary of the 2nd International Symposium on Arthrogryposis, St. Petersburg, Russia, September 17–19, 2014 (2015) (8)
Brief clinical report: an unusual bandlike web in an infant with lethal multiple pterygium syndrome. (1988) (8)
Orthopaedic Aspects of the Trismus Pseudocamptodactyly Syndrome (1984) (8)
Information update on Achondroplasia. (1995) (8)
Syndrome of mental retardation and distal arthrogryposis in sibs. (1991) (7)
Visual impairment and prolonged survival in a girl with Marshall-Smith syndrome. (2006) (7)
False negative results in patients with fra(X) (q) mental retardation taking oral vitamin supplements. (1987) (7)
Case report: Fraser syndrome, cryptophthalmos with small bowel malrotation. (1990) (7)
Electron microscopy as an aid to diagnosis of disorders of the extracellular matrix: a new type of spondyloepiphyseal dysplasia. (1978) (7)
New mechanisms for genetic disease and nontraditional modes of inheritance. (1995) (7)
Broad thumbs and halluces with deafness: A patient with Keipert syndrome (2003) (7)
The smallest of the small. (2013) (7)
A syndrome characterized by contractures and pterygia of upper body associated with umbilical hernia, short stature, and distinctive face in an Arabic family (2005) (7)
Prenatal diagnosis of chromosomal mosaicism for trisomy D. (1977) (7)
Cytogenetic findings in over 2000 amniocenteses. (1983) (7)
Optimal exposure parameters for digital radiography of the infant skull: a pilot study. (2005) (7)
The spectrum of brain malformations and disruptions in twins (2020) (7)
A syndrome of brachyphalangy, polydactyly and absent tibiae (1997) (7)
A new lethal neonatal short limb dwarfism. (1996) (7)
A form of autosomal dominant spondyloepiphyseal dysplasia is caused by a glycine to alanine substitution in the COL2A1 gene (2006) (7)
Detection of Y-specific sequences in patients with Turner syndrome. (2002) (7)
Sponastrime dysplasia: presentation in infancy (2001) (7)
The Summitt syndrome: observations on a third case. (1979) (7)
Pretibial linear vertical creases or indentations (shin dimples) associated with arthrogryposis (2013) (7)
A letter from CMAJ's editorial board to the CMA. (2002) (7)
A distinct autosomal recessive disorder of limb development with preaxial brachydactyly, phalangeal duplication, symphalangism and hyperphalangism (2010) (7)
Prenatal ultrasound findings in a fetus with otopalatodigital syndrome type II. (1994) (7)
Isolated human growth hormone deficiency. IV. The response of sexual ateliotic dwards to exogenous growth hormone. (1968) (7)
Preparing a manuscript for publication: A user-friendly guide. (2006) (7)
Duchenne and Becker muscular dystrophy (DMD and BMD) (2005) (7)
Genetic counseling for adoptees at risk for specific inherited disorders. (1980) (7)
Segregation analysis of microcephaly. (1996) (7)
Head growth in achondroplasia: use of ultrasound studies. (1982) (7)
Pediatricians beware: the age of ARTs is upon us. (2005) (7)
DIASTROPHIC DWARFISM (1972) (7)
Renal tubular leakage complicating microcephalic osteodysplastic primordial dwarfism. (1995) (7)
Chapter 161 - Arthrogryposes (Multiple Congenital Contractures) (2013) (6)
Difficulties in the classification of the epiphyseal dysplasias. (1975) (6)
Behavioral pattern profile: A tool for the description of behavior to be used in the genetics clinic (2004) (6)
Angelman's syndrome, abnormality of 15q11-13, and imprinting. (1990) (6)
Could acrocallosal syndrome and Greig syndrome affect the same developmental gene? (1990) (6)
Possible maternal and hormonal factors in neurofibromatosis. (1981) (6)
Additional information on familial essential (benign) chorea (1978) (6)
Risks to sibs of probands with neural tube defects: data for clinic populations in British Columbia. (1986) (6)
Anterior abdominal wall defects (2005) (6)
Caudal duplication syndrome with unilateral hypoplasia of the pelvis and lower limb and ventriculoseptal heart defect in a mother and features of VATER association in her child (2009) (6)
Persistent upper airway obstruction is a diagnostic feature of spondyloepimetaphyseal dysplasia with multiple dislocations (Hall type) with further evidence for dominant inheritance (2007) (6)
Previously unrecognized form of familial spondyloepiphyseal dysplasia tarda with characteristic facies. (1993) (6)
Epigenetics: What does it mean for paediatric practice? (2014) (6)
Familial limb deficiency (1988) (6)
Limb reduction defects (2005) (6)
Spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type. (2009) (6)
Background to the 2nd International Symposium on Arthrogryposis. (2017) (6)
Deletions and duplications (2005) (5)
Picture of the month. Pseudoachondroplasia (pseudoachondroplastic spondlyloepiphyseal dysplasia). (1974) (5)
Spondyloepimetaphyseal dysplasia (Hall type) with laryngeal stenosis: a new diagnostic feature? (2004) (5)
De novo reciprocal 1p;2q translocation in a child with multiple congenital anomalies/mental retardation syndrome. (1989) (5)
Congenital shortness of the costocoracoid ligament. (1989) (5)
Mental retardation in the turner syndrome (1980) (5)
Osteogenesis imperfecta: the distinction from child abuse and the recognition of a variant form. (1995) (5)
A clinical review and introduction of the diagnostic algorithm for thalidomide embryopathy (DATE) (2018) (5)
VALPROIC ACID EMBRYOPATHY (1987) (5)
Nance‐Sweeney chondrodysplasia—a further case? (1996) (5)
Diagnostic yield of rare skeletal dysplasia conditions in the radiogenomics era (2020) (5)
The SNATIATION reflex. (1990) (5)
Miscarriage and recurrent miscarriage (2005) (5)
An approach to research on congenital contractures. (1984) (5)
Trajectory of an academic career: the coming of age of academic pediatricians. (2013) (5)
Paternal Age and Birth Defects (2007) (5)
Tuberous sclerosis: case report and investigation of family members. (1985) (5)
Marrow stromal cells (MSC): a species comparison. (2003) (5)
Re: Distal arthrogryposis in two sisters born to different fathers [Hwu et al. 2004. Am J Med Genet 125A:100–101.] (2005) (5)
INHERITANCE OF TUBEROUS SCLEROSIS (1979) (5)
A new variety of spondyloepiphyseal dysplasia characterized by punctate corneal dystrophy and abnormal dermal collagen fibrils (1978) (5)
Osteocraniostenosis in a fetus with a 46,XX/46,XY karyotype. (2002) (5)
Dominantly inherited ptosis, strabismus and ectopic pupils (1976) (5)
Cleft lip and palate (2005) (5)
Aerodigestive and communicative behaviors in anencephalic and hydranencephalic infants (2018) (5)
So you think your mother is always looking over your shoulder?--She may be in your shoulder! (2003) (5)
New palpebral fissure measurements (2010) (5)
Noonan syndrome-an unusual family with above average intelligence, a high incidence of cancer and rare type of vasculitis. (1976) (5)
Management of cardiopulmonary bypass (2006) (4)
Validating scoring systems for fracture healing in infants and young children: pilot study (2021) (4)
Epigenetics is here to stay. (2005) (4)
An autosomal dominantly inherited syndrome of facial asymmetry, esotropia, amblyopia, and submucous cleft palate (Bencze syndrome) (1979) (4)
Transdiaphragmatic jejunal duplication: a report of five cases. (1979) (4)
Are stem cell characteristics altered by disease state? (2005) (4)
Morphogenesis: Re: Clinical, natural history, and imaging information on patients included in reports (2003) (4)
Fetal hypokinesia sequence caused by maternal autoimmune disorder? (1992) (4)
Familial renal hypophosphatemia, minor facial anomalies, intracerebral calcifications, and non-rachitic bone changes: apparently new syndrome? (1990) (4)
Folic Acid Fortification in Canada (2007) (4)
Fibrodysplasia ossificans progressiva (myositis ossificans progressiva) treatment with disodium etidronate. (1979) (4)
Comments on "Amyoplasia Congenita-Like Condition and Maternal Malathion Exposure": Is all Amyoplasia Amyoplasia? (1988) (4)
American Pediatric Society Presidential Address 2002: The Third Third (2003) (4)
Mild case of Curry-Jones syndrome. (2006) (4)
When is careless conception a form of child abuse? Lessons from maternal phenylketonuria. (2000) (4)
Congenital adrenal hyperplasia (CAH) (2005) (4)
Endocardial fibroelastosis, neurologic dysfunction and unusual facial appearance in two brothers, coincidentally associated with dominantly inherited macrocephaly. (1980) (4)
Deformations associated with arthrogryposis (2021) (4)
Re: Majewski osteodysplastic primordial dwarfism type II (MOPD II) complicated by stroke: Clinical report and review of cerebral vascular anomalies [Brancati et al., 2005: Am J Med Genet 139A:212–215] (2006) (4)
Long QT and Brugada syndromes (2005) (4)
A lethal skeletal dysplasia with features of chondrodysplasia punctata and osteogenesis imperfecta: an example of Astley-Kendall dysplasia. Further delineation of a rare genetic disorder. (1998) (4)
The mystery of monozygotic twinning I: What can Amyoplasia tell us about monozygotic twinning and the possible role of twin–twin transfusion? (2021) (4)
Case report: hypomagnesaemia in a patient with acromesomelic dysplasia. (1993) (4)
The electron microscopic appearance of presecreted gastric mucus in cystic fibrosis. (1974) (4)
A standardized autopsy protocol for arthrogryposis (multiple congenital contractures) (2019) (4)
Autosomal recessive acrocephalosyndactyly revisited. (1980) (4)
DNA repair defects (2005) (4)
Genetic Counselling in Perinatally Lethal and Severe Progressively Deforming Osteogenesis Imperfecta a (1988) (4)
Fellowships and career development in dysmorphology and clinical genetics. (1992) (4)
Bone dysplasias, nontraditional mechanisms of inheritance and monozygotic twins (1997) (3)
Confirmation of diagnosis (2005) (3)
Re: Microcephalic osteodysplastic primordial dwarfism with severe microdontia and skin anomalies [Kantaputra et al. 2004. Am J Med Genet 130A:181–190] (2005) (3)
Development of an online registry for adults with arthrogryposis multiplex congenita: A protocol paper (2019) (3)
Trends in Twinning Rates (2007) (3)
Thanatophoric dwarfism--maybe genetic but not polygenic. (1973) (3)
Werner's mesomelic dysplasia with ventricular septal defect and Hirschsprung's disease (2005) (3)
Craniofacial development in arthrogryposis (congenital contractures). (1984) (3)
Submicroscopic chromosomal abnormalities and the chromosomal phenotype (2005) (3)
On the Biochemical Differences between Adh Allozymes in Drosophila. (1981) (3)
Fetal cervical hyperextension in arthrogryposis (2019) (3)
The radiologic assessment of short stature--dwarfism. (1972) (3)
Partial expression of Angelman syndrome in mother most likely to be due to mosaicism involving both somatic and germline cells. (1990) (3)
The Hands in Pfeiffer Syndrome (1997) (3)
The Clinic Is My Laboratory: Life as a Clinical Geneticist. (2017) (3)
Editorial independence for CMAJ: signposts along the road (2006) (3)
A new familial case of spondylo-epi-metaphyseal dysplasia with multiple dislocations Hall type (leptodactylic form) (2005) (3)
Keipert syndrome: two further cases and review of the literature. (2008) (3)
The study of heterogeneity and natural history--the importance of this type of research with chondrodystrophies as an example. (1985) (3)
Children of incest: when to suspect and how to evaluate? (1978) (3)
1995 ASHG presidential address. The challenges and opportunities of times of change. (1996) (3)
Ehlers-Danlos syndrome (EDS) (2005) (3)
Epilepsy in infants and children (2005) (3)
Morphogenesis: clinical natural history and imaging information on patients included in reports (2003) (3)
Hypomagnesaemia in a patient with acromesomelic dysplasia (1993) (3)
Clavicular overgrowth in association with cystic hygroma (1991) (2)
Functional alcohol dehydrogenase mutants of Saccharomyces cerevisiae conferring temperature-conditional allyl alcohol resistance. (1987) (2)
New possibilities in the pathogenesis of secondary lymphedema. (2002) (2)
Diagnosis of fetal skeletal dysplasias (2012) (2)
Oculocerebrocutaneous syndrome. (1985) (2)
Collaborating to advance interdisciplinary care for individuals with arthrogryposis (2019) (2)
Knee radiographs in Pfeiffer and Crouzon syndromes. (1997) (2)
Severe deafness in early childhood (2005) (2)
How is the progress in genetics relevant to children's health care. (2004) (2)
Acromesomelic dwarfism. (1980) (2)
Folic acid: the opportunity that still exists; [comment]. (2000) (2)
Hypermobile joints. (1968) (2)
Paediatrician Resource Survey: Preliminary results suggest some urgency. (2001) (2)
Victor A. McKusick, M.D.: A legend in his own time (2008) (2)
Resources for Renewal: A Survey of Professional Development Practices in League for Innovation Community Colleges. (1987) (2)
Problems in diagnosing neurofibromatosis. (1981) (2)
Dysplastic cortical hyperostosis (Kozlowski-Tsuruta syndrome): report of a second case. (2002) (2)
Genetic disorders—Syndromology and prenatal diagnosis. (1983) (2)
Acquired posterior urethral diverticula: A complication of surgery for high anorectal malformations (1994) (2)
Epidemiology, aetiology, interventions and genomics in children with arthrogryposis multiplex congenita: protocol for a multisite registry (2022) (2)
Symmetrical enchondromatosis without vertebral involvement and with cone-shaped phalangeal epiphyses (2001) (2)
A new lethal chondrodysplasia with platyspondyly, long bone angulation and mixed bone density (1996) (2)
Reflections on an academic career (2017) (2)
The mystery of monozygotic twinning II: What can monozygotic twinning tell us about Amyoplasia from a review of the various mechanisms and types of monozygotic twinning? (2021) (2)
Kyphomelic dysplasia. (1989) (2)
Turner syndrome, 45,X and variants (2005) (2)
Cultural influences and neural tube defects in the East Indian Sikh population of British Columbia. (1987) (2)
Increased bone density (2005) (2)
Victor McKusick and the history of medical genetics (2012) (2)
Syndrome of multiple epiphyseal dysplasia (ribbing type) with rhizomelic shortness, cleft palate, and micrognathia in two unrelated patients. (1991) (2)
Epigenetic Effects: A New Way of Explaining Phenotypic Differences in Monozygotic Twins (2005) (2)
Dilated cardiomyopathy (DCM) (2005) (2)
Book Review Fetal Medicine: Basic Science and Clinical Practice Edited by Charles H. Rodeck and Martin J. Whittle. 1162 pp., illustrated. Philadelphia, Churchill Livingstone, 2000. $130. 0-443-05357-X (2001) (2)
Denver Developmental Screening Test (2005) (2)
Amyoplasia, the Most Common Type of Arthrogryposis: The Potential for Good Outcome (1996) (2)
Fibrodysplasie ossifiante progressive. (1979) (2)
Approach to multiple congenital anomaly syndromes. (1985) (2)
Supernumerary marker chromosomes (SMCs)--postnatal (2005) (2)
Victor A. McKusick, M.D.: A clinician's clinician (2009) (2)
Developmental biology IV (2003) (2)
Skeletal Radiology in Children: Non-traumatic and Non-malignant (2008) (2)
Prenatal diagnosis of sex chromosome aneuploidy (2005) (2)
Trisomy 18 in sibs and maternal chromosome 9 variant. (1978) (2)
An introduction to genomic imprinting and parent of origin effects. (1996) (2)
134 LEFT VENTRICULAR SYSTOLIC AND DIASTOLIC FUNCTION AFTER TOTAL CORRECTION OF TETRALOGY OF FALLOT (1985) (1)
Mild expression of the Pfeiffer syndrome (1988) (1)
Dilated cardiomyopathy, sudden cardiac death, hypoplastic discs, and retinal detachment: a new autosomal dominant syndrome (2002) (1)
Mitochondrial DNA diseases (2005) (1)
Assisted reproductive technology: in vitro fertilization (IVF), intracytoplasmic sperm injection (ICSI), and pre-implantation genetic diagnosis (PGD) (2005) (1)
Mucopolysaccharidoses and Oligosaccharidoses (2018) (1)
Northwest Indigenous Art and the Inspiring Spirits (2021) (1)
Fetal mortality in sibships of cases with neural tube defects (1986) (1)
Huntington disease (HD) (2005) (1)
Growth Hormone Therapy in Girls with Turner Syndrome (2006) (1)
Hereditary haemorrhagic telangiectasia (HHT) (2005) (1)
Oedema--increased nuchal translucency, cystic hygroma, and hydrops (2005) (1)
Bardet-Biedl and Laurence Moon Syndromes Are One and the Same (2005) (1)
As easy as A , B , C ? (2003) (1)
The Clubfoot, Le Pied‐Bot (2021) (1)
Approach to the consultation with a child with dysmorphism, congenital malformation, or developmental delay (2005) (1)
Clinical and radiologic information or photographs (2002) (1)
Myotonic dystrophy (DM) (2005) (1)
Pregnancy in Women with Turner's Syndrome (2002) (1)
Introductory Speech for Robert J. Gorlin (2005) (1)
Proportional Growth and Normal Variants (2013) (1)
Perspectives on the future of dysmorphology (2022) (1)
The contributions of careful clinical observations: A legacy (2021) (1)
The genete approach to human disease, Vincent M. Riccardi. Oxford University Press, New York, 1977, 266 pp., cloth: $13.95, paper: $7.95 (1977) (1)
Maternal Effect in Neurofibromatosis (1978) (1)
Re: Down syndrome and folic acid deficiency (2004) (1)
The Cervical Spine in Saethre-Chotzen Syndrome (1997) (1)
Hereditary motor and sensory neuropathy (HMSN) (2005) (1)
Reflecting on governance for CMAJ (2006) (1)
Continuing contributions of older academics (2020) (1)
PRENATAL DIAGNOSIS OF POLYSPLENIA SYNDROME (1987) (1)
Renal tract anomalies (2005) (1)
Chromosomal mosaicism--postnatal (2005) (1)
Beckwith-Wiedemann syndrome (BWS) (2005) (1)
Duplication in Chromosome 8p in Kabuki Syndrome (2004) (1)
Male infertility: genetic aspects (2005) (1)
GENETIC ASPECTS OF ARTHROGRYPOSIS (1985) (1)
Give the embryo a chance (1997) (1)
Evidence-based radiology in child abuse (2018) (1)
A bone is not a bone is not a bone. (1998) (1)
Pseudarthrosis presenting as a late complication of meningococcal septicaemia and disseminated intravascular coagulation (2004) (1)
50 Years Ago in TheJournalofPediatrics: Arthrogryposis Multiplex Congenita: A Clinical Investigation. (2020) (1)
Using the skills of academic elders. (2016) (1)
Head Circumference (Occipitofrontal Circumference, OFC) (2013) (1)
Retinal receptor dystrophies (2005) (1)
Lethal micromelic short-rib skeletal dysplasia with triangular-shaped humerus (1999) (1)
Transdiaphragmatic herniation of peritoneal dialysis fluid post Nissen's operation: an unusual cause for a mass on the chest radiograph (1997) (1)
Measurements for Specific Syndromes (2013) (1)
The new genetics and its relevance to orthopedics. (1991) (1)
Maternal phenylketonuria (PKU) (2005) (1)
Radial ray defects and thumb hypoplasia (2005) (1)
X-autosome translocations (2005) (1)
Cell division--mitosis, meiosis, and non-disjunction (2005) (1)
Androgen insensitivity syndrome (AIS) (2005) (1)
Glossary of terms used in dysmorphology (2005) (1)
Pediatric Diseases and Epigenetics (2016) (1)
Craniofacial dysostosis-either Stanesco dysostosis or a new entity. (1974) (1)
Genito-urinary System (1986) (1)
Height and Length (2013) (1)
Clues to Autism from an Excess of Affected Twins (2002) (0)
Kyphomelic dysplasia. (1994) (0)
Recurrent Dominant Mutations Affecting Two Adjacent Residues in the Motor Domain of the Monomeric Kinesin KIF22 Result in Skeletal Dysplasia and Joint Laxity (vol 89, pg 769, 2011) (2012) (0)
Sutural hyperostoses, epibulbar dermoids and developmental delay: a further case of regional Proteus syndrome or a distinct clinical entity? (2000) (0)
An apparently new syndrome of bowed tibiae, radial anomalies, osteopenia, multiple fractures and developmental delay. (1993) (0)
Overgrowth/Accelerated Skeletal Maturation Syndromes (Selected) (2018) (0)
Short-Rib (±Polydactyly) Dysplasias (2018) (0)
Telemedicine conference on a 13-year-old Chinese girl with an unusual skeletal condition (1998) (0)
Diagnostic Paediatric Imaging: a case study teaching manual (1986) (0)
Osteogenesis Imperfecta and Other Disorders with Decreased Bone Density (2018) (0)
Acromesomelic and Acromelic Dysplasias/Dysostoses (2018) (0)
Spondylo-Epi-Metaphyseal and Spondylo-Metaphyseal Dysplasias (2018) (0)
Molecular Biology in Basic and Clinical Neuroscience Research (1988) (0)
Dense Bone Dysplasias with Normal Bone Shape (2018) (0)
Disorders with Prenatal Short Stature and Slender Bones (2018) (0)
Filamin-Associated Dysplasias/Dysostoses and Related Disorders (2018) (0)
RETRACTED ARTICLE: Fetal methotrexate syndrome and Antley–Bixler syndrome should not be confused (2018) (0)
O01 Hypophosphatasia in adults at a specialist centre in the UK: the spectrum of musculoskeletal disease (2020) (0)
Book reviewsCheirolumbar Dysostosis. Developmental Brachycheiry and Stenosis of the Bony Vertebral Lumbar Canal. By WackenheimA., pp. vi + 102, 1980 (Springer-Verlag, Heidelberg), DM 58; $34.30 ISBN 3–540–10371–6 0–387–10371–6 (1983) (0)
Dense Bone Dysplasias with Meta-Diaphyseal Modeling Defects (2018) (0)
Gastro-intestinal Tract (1986) (0)
Diagnostic paediatric imaging (1986) (0)
Classical metaphyseal lesions (CMLs) (2018) (0)
Dysorders with Defective Mineralization (2018) (0)
Pseudoachondroplasia and Dominant Epiphyseal Dysplasia (2018) (0)
Cervical spinal fusion in apert syndrome (1996) (0)
Spondyloepiphyseal dysplasia with nephrotic syndrome (Schimke immunoosseous dysplasia). (1997) (0)
Achondroplasia and Related FGFR3 Conditions (2018) (0)
Metatropic Dysplasia and Other TRPV4-Related Skeletal Dysplasias (2018) (0)
Molecular biology in basic and clinical neuroscience research : Edited by J. de Vellis, J. Lauder, J. Mallet, A. Privat and J.R. Perez-Polo Alan R. Liss; New York, 1986 332 pages. £56.00 (1987) (0)
Using stem cells to repair the degenerate retina. Stem cells in the context of retinal degenerations. (2006) (0)
Book reviewsCatalog of Prenatally Diagnosed Conditions. By WeaverDavid D., pp. xxvi + 251, 1989 (The John Hopkins University Press, Baltimore, USA), £29.00. ISBN 0–8018–3771–5 (1990) (0)
Book reviewsSclerosing Bone Dysplasias. By BeightonP. & CreminB. J.. pp. viii+191, 1980 (Springer Verlag, Berlin/Heidelberg/New York), DM.112./$66.10. ISBN 3–540–09471–7 (1982) (0)
Limb Aplasias and Hypoplasias (Selected) (2018) (0)
A novel human limb malformation caused by deletions in HOXD13. (1998) (0)
Limb Anomalies in Craniosynostosis Syndromes Resulting from Mutations of the FGFR 2 Gene (1997) (0)
Normal fetal skeletal growth and development (2012) (0)
Spondyloepiphyseal Dysplasia Congenita and Related Type 2/Type 11 Collagen Disorders (2018) (0)
P03.18: Sonographic diagnosis of Osteogenesis Imperfecta types IIB, III and IV (2005) (0)
Diagnostic yield of rare skeletal dysplasia conditions in the radiogenomics era (2021) (0)
Flat bones and spine (2018) (0)
Extreme intrauterine growth retardation, hydrocephalus and aged facial appearance: a previously unrecognized autosomal recessive disorder? (1996) (0)
Early prenatal presentation of the cartilage-hair hypoplasia / anauxetic dysplasia spectrum of disorders mimicking recurrent thanatophoric dysplasia. (2021) (0)
Chondrodysplasia punctata: an aetiological classification and diagnostic aid (2005) (0)
OP02.38: Growth patterns and sonographic features in viable skeletal dysplasias: a diagnostic aid (2006) (0)
Punctate Calcification Group (2018) (0)
The development and evaluation of two computer-based diagnostic aids in the field of inherited skeletal dysplasias and malformation syndromes. (2005) (0)
Dysplasias with Predominant Metaphyseal Involvement (2018) (0)
Book reviewsRadiological Atlas of Pulmonary Abnormalities in Children, 2nd edn. By SingletonEdward B., WagnerMilton L. and DuttonRobert V., pp. viii + 355, 1988 (W. B. Saunders, Philadelphia), £47.00. ISBN 0–7216–2062–0 (1990) (0)
Disorders with Defective Joint Formation (2018) (0)
Rhizo-Mesomelic Dysplasias (2018) (0)
Radiological Atlas of Child Abuse: A Complete Resource for MCQs, v. 1 (2009) (0)
CLINICAL SIGNS IN DEEP VEIN THROMBOSIS (1971) (0)
Diastrophic Dysplasia and Related Conditions, and Dysplasias with Joint Dislocations (2018) (0)
Disorders Caused by Disorganization of Skeletal Constituents (2018) (0)
Pseudarthroses of the long bones in inherited disorders. A report of two cases. (1986) (0)
IMAGING | Radiology, Pediatric, Scintigraphy and Child Abuse (2005) (0)
Some Structural Congenital Anomalies Are More Common in Males (2004) (0)
Laterality disorders including heterotaxy and isomerism (2005) (0)
Maternal Fever and Neural Tube Defects (2005) (0)
Female infertility and amenorrhoea: genetic aspects (2005) (0)
Mysteries of Language Disorders Might Yield to Genetic Approaches (2009) (0)
Identification of New Genes and Pathways for Undiagnosed Infantile Spinal Muscular Atrophy Disorders. (S42.005) (2014) (0)
Variations in the Growth-Hormone-Receptor Gene Important in Therapy Outcome (2004) (0)
HIGH RISK PAEDIATRIC INTER-HOSIPTAL TRANSPORT (1987) (0)
Optic nerve hypoplasia (2005) (0)
722 AMYOPLASIA: A DISTINGUISHABLE FORM OF ARTHROGRYPOSIS (1981) (0)
Oral Vitamin A Derivatives Are Teratogenic, but Topicals, Apparently, Are Not (2005) (0)
Growth Hormone Therapy and Cognitive Changes in Children with 18q Deletions (2005) (0)
Oedema--generalized or puffy extremities (2005) (0)
Patchy hypomelanotic skin lesions (2005) (0)
Skeletal dysplasia charts (2005) (0)
Colorectal cancer (CRC) (2005) (0)
Dysmorphology examination checklist (2005) (0)
Cilia Protein Defects Implicated in More Diseases (2007) (0)
Autosomal reciprocal translocations--familial (2005) (0)
Comment on: Down syndrome and folic acid deficiency. Author's reply (2004) (0)
Prolonged neonatal jaundice and jaundice in infants below 6 months (2005) (0)
A Simple Adjunct Screening Test for Angelman Syndrome (2003) (0)
Autosomal reciprocal translocations--background (2005) (0)
Invasive techniques and genetic tests in prenatal diagnosis (2005) (0)
Fetomaternal alloimmunization (rhesus D and thrombocytopenia) (2005) (0)
Syndactyly (other than 2,3 toe syndactyly) (2005) (0)
Genome-Wide Association Studies: Can They Predict Human Disease? (2009) (0)
Familial Odontoid Hypoplasia and Risk in Family Members (2009) (0)
Genome-Wide Association Study Begins to Tease Out Pathways for Childhood Asthma (2010) (0)
Clinically Distinct Syndromes Make Sense Biologically as Part of a Pathway (2006) (0)
Chest and Trunk (2013) (0)
Autosomal recessive (AR) inheritance (2005) (0)
Coarse facial features (2005) (0)
Minor congenital anomalies (2005) (0)
Should Children Be Tested for Genetic Susceptibility to Adult-Onset Disease? (2003) (0)
Hereditary spastic paraplegias (HSP) (2005) (0)
Failure to thrive (prenatal and postnatal growth failure) (2005) (0)
Phenotypic Abnormalities Are Associated with Chromosome Rings (2003) (0)
Comment on: Distal arthrogryposis in two sisters born to different fathers (2005) (0)
How Much Should We Worry About Aminoglycoside Ototoxicity (2003) (0)
Judith G. Hall: a genetic journey (2014) (0)
Genetic Handles on Silver-Russell Syndrome (2006) (0)
Club-foot (talipes) (2005) (0)
Change of Paternity: A New Environmental Risk? (2007) (0)
Solitary Median Maxillary Central Incisor Syndrome: A Hallmark for Holoprosencephaly (2004) (0)
Confirmation of diagnosis of cancer (2005) (0)
Genes Associated with Hair, Eye, and Skin Pigmentation (2008) (0)
New Information About the Genetic Basis for Autism (2007) (0)
Congenital diaphragmatic hernia (2005) (0)
Multivitamin Supplementation: No Decrease in Autosomal Trisomy (2004) (0)
GI Abnormalities Are Common in Down Syndrome (2009) (0)
50 Years Ago in T J P (2020) (0)
Edwards' syndrome (trisomy 18) (2005) (0)
Maternal diabetes mellitus and diabetic embryopathy (2005) (0)
MCADD Newborn Screening (2006) (0)
Dermatoglyphics and Trichoglyphics (2013) (0)
Multiple endocrine neoplasia (MEN) (2005) (0)
Offspring of Gulf War Veterans Are at Risk for Congenital Anomalies (2003) (0)
Consent for genetic testing (2005) (0)
Morphogenesis: Comment on: Clinical, natural history, and imaging information on patients included in reports. Author's reply (2003) (0)
Second-Trimester Maternal Fever and Behavioral Outcomes (2004) (0)
In Turner Syndrome, the Normal X Chromosome Is Usually Maternal (2002) (0)
X-linked recessive (XLR) inheritance (2005) (0)
Structural Anomalies of the Brain with Cleft Lip and Palate (2002) (0)
Staging of puberty (2005) (0)
Investigation of lethal metabolic disorder or skeletal dysplasia (2005) (0)
Normal range of aortic root dimensions (2005) (0)
New Genetic Tests Improve the Recognition of Small Deletions and Duplications (2006) (0)
Autosomal Recessive Polycystic Kidney Disease Gene Identified (2002) (0)
Hypoplastic left heart (2005) (0)
Check Out the Placenta in Newborns with Intrauterine Growth Restriction (2007) (0)
Judith G Hall (2003) (0)
Flu During Pregnancy and the Risk to Offspring (2006) (0)
Patau syndrome (trisomy 13) (2005) (0)
X-linked adrenoleukodystrophy (X-ALD) (2005) (0)
Accutane Still Causing Birth Defects (2002) (0)
FRYNS SYNDROME: FURTHER DELINEATION AND ANTENATAL DIAGNOSIS (1987) (0)
Ambiguous genitalia (including sex reversal) (2005) (0)
Peutz-Jeghers syndrome (PJS) (2005) (0)
Another Reason for Folic Acid Supplementation (2003) (0)
Glossary of terms used in genetics (2005) (0)
Maternal Obesity Is a Risk Factor for Birth Defects (2007) (0)
Editorial help (2004) (0)
In Vitro Fertilization and Beckwith-Wiedemann Syndrome (2003) (0)
826 GENETIC HETEROGENEITY IN ARTHROGRYPOSIS (MULTIPLE CONGENITAL CONTRACTURES) (1985) (0)
Klinefelter Syndrome Revisited (2008) (0)
Sudden Hearing Loss and Folic Acid (2005) (0)
Standard Outline for Each Nation (2.1–2.19) (1989) (0)
Haemophilia and other inherited coagulation disorders (2005) (0)
Quick Reference Material (2005) (0)
Localized acalvaria with craniosynostosis (2008) (0)
Fetal alcohol syndrome (FAS) (2005) (0)
135 CORRELATION OF PEAK SYSTOLIC PRESSURE/END SYSTOLIC VOLUME(PSP/ESV) AND END SYSTOUC PRESSURE/END SYSTOLIC VOLUME (ESP/ESV) RATIOS (1985) (0)
Victor McKusick and the history of medical genetics (2013) (0)
Autosomal reciprocal translocations--postnatal (2005) (0)
Low maternal serum oestriol (2005) (0)
Unusual hair, teeth, nails, and skin (2005) (0)
Testing for genetic status (2005) (0)
Hereditary nonpolyposis colorectal cancer (HNPCC) (2005) (0)
Lissencephaly and neuronal migration disorders (2005) (0)
Submicroscopic Chromosomal Abnormalities Are Common in Children with Congenital Heart Disease (2009) (0)
Radiological investigations including magnetic resonance imaging (MRI) (2005) (0)
Cowden syndrome (CS) (2005) (0)
When One Twin Dies in Utero, the Other's Long-Term Prognosis Is Poor (2004) (0)
Single Umbilical Artery: Is It a Concern? (2008) (0)
Genetic Diseases Are Common Among Pediatric Admissions (2004) (0)
Examining the Vanishing Twin Hypothesis of Neural Tube Defects: Application of an Epigenetic Predictor for Monozygotic Twinning (2021) (0)
Using the Term Amyoplasia Loosely Can Lead to Confusion. (2020) (0)
X-linked dominant (XLD) inheritance (2005) (0)
Over the years, I hope I've learned a few things to pass along! (2011) (0)
Letter from Judith G. Hall to Victor A. McKusick (1974) (0)
Males and Females Are Different After All (2006) (0)
Reader response: Disability in adults with arthrogryposis is severe, partly invisible, and varies by genotype (2019) (0)
Neurofibromatosis Type 1 Affects Personality (2003) (0)
The Paternal-Age Effect in Genetic Disorders: More Than Mutation Frequency (2004) (0)
Cystic fibrosis (CF) (2005) (0)
Gene Deficiency Associated with Sotos Syndrome (2002) (0)
Autism Linked with Deletions and Duplications at Chromosome 16p11.2 (2008) (0)
ARTERIAL OCCLUSION IN 47,XYY MALE (1975) (0)
An Approach to the Child with Dysmorphic Features (2013) (0)
Distribution of muscle weakness in different types of muscular dystrophy (2005) (0)
Fetal Determinants of Adult Health (2002) (0)
Patchy pigmented skin lesions (including café-au-lait spots) (2005) (0)
The importance of language when describing rare disorders (2020) (0)
Micrognathia and Robin sequence (2005) (0)
Dandy-Walker malformation (2005) (0)
Family tree sheet and symbols (2005) (0)
Fragile X Mutations Might Predispose to Turner Syndrome (2009) (0)
Johanson-Blizzard Syndrome Gene Found (2006) (0)
Cardiomyopathy in children under 10 years (2005) (0)
A recessive formofcongenital contractures and torticollis associated withmalignant hyperthermia (1988) (0)
Communication Between Parents and Children About Inherited Genetic Conditions (2008) (0)
ELECTROMYOGRAPHY IN CLINICAL PRACTICE (1980) (0)
Another Form of Genomically Imprinted Mental Retardation (2008) (0)
Rett Syndrome Gene Duplication Associated with Unexplained X-Linked Mental Retardation (2009) (0)
Health Supervision for Children With Achondroplasia (Clinical Report) (2013) (0)
Spots Do Run in Families (2004) (0)
Down Syndrome: Changes in Survival During the Past 20 Years (2009) (0)
Clefting of the Epiglottis — Rare, but Usually Syndromic (2005) (0)
Statins and Low Cholesterol May Be Bad News for Human Embryos and Fetuses (2005) (0)
Maternal Diabetes Does Not Increase Risk for Down Syndrome (2003) (0)
Hypoglycaemia in the neonate and infant (2005) (0)
Haploid autosomal lengths of human chromosomes (2005) (0)
Neurofibromatosis and Growth (2005) (0)
Hemihypertrophy and limb asymmetry (2005) (0)
Timing of Intestinal Rotation in Human Embryos (2004) (0)
New Immunosuppressant Is Teratogenic (2008) (0)
Limb girdle muscular dystrophies (2005) (0)
Original article50 Years Ago in The Journal of Pediatrics: Studies in human reproduction, III. The frequency of congenital malformations in the offspring of nondiabetic and diabetic individuals (2008) (0)
Centile charts for occipital-frontal circumference (OFC) (2005) (0)
Silver-Russell Syndrome Is an Epigenetic Problem (2008) (0)
Comment on: Segmental neurofibromatosis in childhood by Listernick et al. (2004) (0)
Is Newborn Screening for Fragile X Syndrome Desirable (2009) (0)
Behavioural pattern profile (Shalev and Hall 2004) (2005) (0)
Another Gene Added to the List for Noonan Syndrome (2007) (0)
Tuberous Sclerosis Complex (TSC) (2011) (0)
Conversion charts from English to metric units for height and weight (2005) (0)
What Is the Risk for Recurrence of a Trisomy in Subsequent Pregnancy (2004) (0)
Additional Commentary: Should We Test Pediatric Patients for Genetic Disorders? (2006) (0)
Mortality in Achondroplasia (2008) (0)
Structural intracranial anomalies (agenesis of the corpus callosum, septo-optic dysplasia, and arachnoid cysts) (2005) (0)
Generalized disorders of skin pigmentation (including albinism) (2005) (0)
Postmortem Organ Weights (2013) (0)
Prenatal Ultrasound Measurements (2013) (0)
Use of Subtelomeric FISH in the Work-Up of Children with Developmental Delay (2004) (0)
March of dimes annual review of birth defects, 1978. Part B. Penetrance and variability in malformation syndromes. (1981) (0)
The Etiology of Marfan Syndrome Is Heterogeneous (2004) (0)
Oesophageal and intestinal atresia (including tracheo-oesophageal fistula) (2005) (0)
Cancer surveillance methods (2005) (0)
A rare form of arthrogryposis (1975) (0)
Plagiocephaly and abnormalities of skull shape (2005) (0)
Imaging in prenatal diagnosis (2005) (0)
Seizures with developmental delay/mental retardation (2005) (0)
Spinal muscular atrophy (SMA) (2005) (0)
When Are Two Genetic Hits Enough to Break a Bone (2006) (0)
Fragile X syndrome (FRAX) (2005) (0)
Paroxetine and Birth Defects: The FDA Issues an Advisory (2006) (0)
Neonatal encephalopathy and intractable seizures in the neonate (2005) (0)
Mental retardation with apparent X-linked inheritance (2005) (0)
Thevalueofthestudyofnatural history ingenetic disorders andcongenital anomalysyndromes (1988) (0)
136 COMPARISON BETWEEN N MODE AND DIGITIZED ECHOCARDIOGRAPHY IN THE DETECTION OF ANTHRACYCLINE CARDIOTOXICITY (1985) (0)
Chapter 7 – Arthrogryposis (2015) (0)
NEW CHROMOSOMAL AND MALFORMATION SYNDROMES (1975) (0)
ECHOES ACROSS GENERATIONS (2018) (0)
The Problem with Being Second (2007) (0)
Li-Fraumeni syndrome (LFS) (2005) (0)
Autism and austism spectrum disorders (2005) (0)
Histologic Features of Neurofibromas and their Correlation with Severity of Disease (1978) (0)
CK (Creatine kinase) levels in carriers of Duchenne muscular dystrophy (DMD) (2005) (0)
Mosaic trisomy 16 (2020) (0)
Sentistivity to anaesthetic agents (2005) (0)
Be prepared for prenatal diagnosis (2017) (0)
Duane retraction syndrome (2020) (0)
Congenital Contractures: Emphasizing Multiple Congenital Contractures—Arthrogryposis (2014) (0)
No Higher Risk for Chromosomal Abnormalities in Kids of Childhood Cancer Survivors (2004) (0)
NON-TRADITIONAL FORMS OF INHERITANCE THAT ARE RELEVANT FOR PEDIATRIC ENDOCRINOLOGY (1993) (0)
Progress Is Being Made on Cause of Premature Aging (2003) (0)
Carrier frequency and carrier testing for autosomal recessive disorders (2005) (0)
Mutated Gene Is Associated with CHARGE Syndrome in Half of Cases (2006) (0)
CHAPTER 40 – PRIMARY DISORDERS OF BONE AND CONNECTIVE TISSUES (2005) (0)
INCIDENCE OF CONGENITAL ANOMALIES IN A NEONATAL INTENSIVE CARE UNIT (NICU) (1987) (0)
Prenatal Detection of Connective Tissue Disorders (1986) (0)
Should Asymptomatic Minors Be Tested for Genetic Disorders (2009) (0)
Triploidy (69,XXX, 69,XXY, or 69,XYY) (2005) (0)
Hypertrophic cardiomyopathy (HCM) (2005) (0)
Premature ovarian failure (POF) (2005) (0)
Preconceptional Folate Supplementation Reduces Risk for Spontaneous Preterm Birth (2009) (0)
Neurofibromatosis 1: Spots Are OK, but Bumps Are Not (2005) (0)
DECIPHER: A New Tool to Help Interpret Genomic Array Analysis Results (2009) (0)
Gene for Noonan Syndrome Found (2002) (0)
The non-invasive investigation of the gastrointestinal tract in neonates and infants. (1984) (0)
Ptosis, blepharophimosis, and other eyelid anomalies (2005) (0)
Use of Radiographs for Measurement (2013) (0)
A Rare Disorder Examined: Prader-Willi Syndrome (2004) (0)
Anal anomalies (atresia, stenosis) (2005) (0)
Fetal anticonvulsant syndrome (FACS) (2005) (0)
Reproductive Decisions After Carrier Screening and Counseling for Gaucher Disease (2008) (0)
Suspected non-accidental injury (2005) (0)
Immunodeficiency and recurrent infection (2005) (0)
What Does Animal Cloning Tell Us About the Risks to Human Beings (2002) (0)
Obesity with and without developmental delay (2005) (0)
The Gene for Costello Syndrome Has Been Identified (2006) (0)
Progress in Genetic Evaluation of Congenital Diaphragmatic Hernia (2008) (0)
TERATOGEN UPDATE-ENVIRONMENTALLY INDUCED BIRTH DEFECT RISKS (1987) (0)
The genetic code and mutations (2005) (0)
Congenital malformations: Case studies in developmental anatomy. (1974) (0)
Medical genetics and your family (1987) (0)
Who Would Have Thought That Hurler Syndrome Was Treatable (2005) (0)
Microphthalmia and anophthalmia (2005) (0)
Variations in Mortality Rates at Neonatal ICUs (2002) (0)
Obituary: Dr. David L. Rimoin (2012) (0)
Noonan syndrome (NS) (2005) (0)
Terminology for Vascular Birthmarks of Infancy (2002) (0)
BECKWITH WIEDEMANN SYNDROME PRESENTING IN PREMATURE INFANTS (1987) (0)
Interesting Updates About the Cystic Fibrosis Gene (2007) (0)
Skin and Hair (2013) (0)
Lifestyle factors in cancer: smoking, alcohol, obesity, diet, and exercise (2005) (0)
Arthrogryposis multiplex and related congenital disorders (2004) (0)
2004 ASHG Award for Excellence in Human Genetics Education. Introductory speech for Robert J. Gorlin. (2005) (0)
Marijuana Use Early in Pregnancy May Predispose to VSDs (2004) (0)
Centile charts for girls height, weight, and occipital-frontal circumference (OFC) (2005) (0)
The Etiology of Multiple Congenital Contractures Begins to Unravel (2003) (0)
Embryonic fetal development (overview) (2005) (0)
Monozygotic Twins Are Not Genetically Identical (2008) (0)
List of Contributors (2019) (0)
Assessing the Genetic Causes of Hearing Loss (2002) (0)
Autosomal dominant (AD) inheritance (2005) (0)
Hearing Loss Detected at Newborn Screening May Well Warrant Genetic Testing (2007) (0)
Prader-Willi Syndrome — Changing Proportions of Genetic Subtypes (2007) (0)
Lumps and bumps (2005) (0)
Syndrome Recognition by Computer (2006) (0)
Radiation exposure, chemotherapy and landfill sites (2005) (0)
Mortality in Children with Birth Defects (2006) (0)
BRCA1 and BRCA2 (2005) (0)
Autosomal dominant polycystic kidney disease (ADPKD) (2005) (0)
The Cause of Polycystic Liver Disease Has Been Found (2003) (0)
Tuberous sclerosis: casereport andinvestigation offamily members (1985) (0)
Juvenile polyposis syndrome (JPS) (2005) (0)
Developmental delay in the child with consanguineous parents (2005) (0)
Congenital cystic lung lesions, Currarino syndrome, and sacrococcygeal teratoma (2005) (0)
Newly Recognized Teratogens (2003) (0)
NEAR-DROWNING IN BRITISH COLUMBIA (1987) (0)
Supplementary Material for: Arthrogryposis as a Syndrome: Gene Ontology Analysis (2016) (0)
DELINEATION OF VARIABILITY WITHIN FAMILIAL NOONAN'S SYNDROME (1984) (0)
Non-traditional forms of inheritance in skeletal dysplasias (2005) (0)
The excretion of 5beta pregnane 3alpha,17alpha,20alpha triol in the urine of subjects receiving SU-4885. (1962) (0)
New Mitochondrial Disease Identified In Monozygotic Twin Boys (2023) (0)
Kaufman syndrome. (1981) (0)
RE: Segmental neurofibromatosis in childhood [Listernick et al., 2003: Am. J. Med. Genet. 121A:132–135.] (2004) (0)
Genomic imprinting. (1990) (0)
Natural history of human chondrodysplasias. (1988) (0)
Genomic imprinting. (1990) (0)
Neural tube defects. Introduction. (1994) (0)
Letter: Arterial occlusion in 47,XYY male. (1975) (0)
Prenatal diagnosis of inherited skin diseases. (1981) (0)
Genomic Imprinting (1996) (0)
Natural history of specific birth defects: Introduction. (1977) (0)
Diastrophic dwarfism with ossicle malformation. (1971) (0)
Lethal respiratory course and additional features expand the phenotypic spectrum of PIEZO2‐related distal arthrogryposis type 5 (2022) (0)
An approach to malformation syndromes. (1985) (0)
Arthrogryposis. (2020) (0)
Mendel might get dizzy. (1997) (0)
THE AUTOSOMAL TRISOMIES (1964) (0)
Neuroleptic Malignant Syndrome (NMS): What are the Genetic Factors? (1987) (0)
Festschrift reflection (2006) (0)
Macrocephaly (2017) (0)
Retinitis pigmentosa (RP) (2005) (0)
Familial adenomatous polyposis (FAP) (2005) (0)
Anterior segment eye malformations (2005) (0)
Book Review The Fetus as a Patient: The Evolving Challenge Edited by Frank A. Chervenak, Asim Kurjak, and Zoltan Papp. 344 pp., illustrated. New York, Parthenon, 2002. $139.95. 1-84214-157-0 (2003) (0)

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