Victor A. McKusick
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American internist and medical geneticist
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Why Is Victor A. McKusick Influential?
(Suggest an Edit or Addition)According to Wikipedia, Victor Almon McKusick was an American internist and medical geneticist, and Professor of Medicine at the Johns Hopkins Hospital, Baltimore. He was a proponent of the mapping of the human genome due to its use for studying congenital diseases. He is well known for his studies of the Amish. He was the original author and, until his death, remained chief editor of Mendelian Inheritance in Man and its online counterpart Online Mendelian Inheritance in Man . He is widely known as the "father of medical genetics".
Victor A. McKusick's Published Works
Published Works
- The Sequence of the Human Genome (2001) (6572)
- Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders (2004) (2464)
- Mendelian inheritance in man (1971) (2199)
- Online Mendelian Inheritance In Man (OMIM) (2000) (1298)
- Heritable disorders of connective tissue (1972) (1195)
- The Marfan syndrome: diagnosis and management. (1979) (885)
- Genetic Control of Isoniazid Metabolism in Man (1960) (766)
- Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders. (2002) (747)
- Implications of the Human Genome Project for medical science. (2001) (728)
- Life expectancy and causes of death in the Marfan syndrome. (1972) (721)
- International Nosology of Heritable Disorders of Connective Tissue, Berlin, 1986. (1988) (703)
- Mendelian Inheritance in Man and Its Online Version, OMIM (2007) (684)
- The genetics of hand malformations. (1978) (667)
- Mendelian Inheritence in Man. Catalogs of Autosomal Dominant, Autosomal Recessive and X-linked Phenotypes (1967) (626)
- Generalized intestinal polyposis and melanin spots of the oral mucosa, lips and digits; a syndrome of diagnostic significance. (1949) (499)
- The Cardiovascular Aspects of Marfan's Syndrome: A Heritable Disorder of Connective Tissue (1955) (489)
- Reviews and Notes: Genetics: Mendelian Inheritance in Man: A Catalog of Human Genes and Genetic Disorders (1995) (476)
- Patients with Ehlers-Danlos syndrome type IV lack type III collagen. (1975) (392)
- Dissecting Human Disease in the Postgenomic Era (2001) (381)
- Generalized intestinal polyposis and melanin spots of the oral mucosa, lips and digits; a syndrome of diagnostic significance. (2010) (357)
- OMIM: Online Mendelian Inheritance in Man (2002) (338)
- The status of the gene map of the human chromosomes. (1977) (308)
- DWARFISM IN THE AMISH. II. CARTILAGE-HAIR HYPOPLASIA. (1965) (279)
- Probable assignment of the Duffy blood group locus to chromosome 1 in man. (1968) (266)
- THROMBOCYTOPENIA WITH ABSENT RADIUS (TAR) (1969) (258)
- HOMOCYSTINURIA. STUDIES OF 20 FAMILIES WITH 38 AFFECTED MEMBERS. (1965) (245)
- SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia (2002) (241)
- Catalog of Genetic Variations. (Book Reviews: Mendelian Inheritance in Man. Catalogs of Autosomal Dominant, Autosomal Recessive, and X-Linked Phenotypes) (1967) (228)
- Cardiovascular Sound in Health and Disease (1959) (212)
- Defect in Conversion of Procollagen to Collagen in a Form of Ehlers-Danlos Syndrome (1973) (212)
- THE GENETIC MUCOPOLYSACCHARIDOSES (1965) (208)
- Aortic arch syndromes; diminished or absent pulses in arteries arising from arch of aorta. (1953) (201)
- DWARFISM IN THE AMISH I. THE ELLIS-VAN CREVELD SYNDROME. (1964) (201)
- Byler Disease: Fatal Familial Intrahepatic Cholestasis in an Amish Kindred (1969) (191)
- DWARFISM IN THE AMISH. (1964) (190)
- PSEUDOXANTHOMA ELASTICUM: A CLINICAL AND HISTOPATHOLOGICAL STUDY (1963) (187)
- Surgical treatment of aneurysms of the ascending aorta in the Marfan syndrome. Results of composite-graft repair in 50 patients. (1986) (186)
- Aortic root replacement. Risk factor analysis of a seventeen-year experience with 270 patients. (1995) (185)
- Byler disease. Fatal familial intrahepatic cholestasis in an Amish kindred. (1965) (183)
- Genomics and medicine. Dissecting human disease in the postgenomic era. (2001) (183)
- Genetic factors in intestinal polyposis. (1962) (179)
- Classification of pseudoxanthoma elasticum: report of a consensus conference. (1994) (174)
- On Lumpers and Splitters, or the Nosology of Genetic Disease (2015) (174)
- McKusick's heritable disorders of connective tissue (1993) (173)
- Association of congenital bicuspid aortic valve and erdheim's cystic medial necrosis. (1972) (171)
- Mapping and sequencing the human genome. (1989) (171)
- On the X Chromosome of Man (1962) (166)
- Buerger's Disease: A Distinct Clinical and Pathologic Entity (1962) (165)
- Abnormal collagen metabolism in cultured cells in osteogenesis imperfecta. (1975) (160)
- Direct sequencing of the gene for Maryland/German familial amyloidotic polyneuropathy type II and genotyping by allele-specific enzymatic amplification. (1989) (159)
- I. Mechanisms (1957) (152)
- Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway. (2004) (143)
- The Amish. (1980) (141)
- Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease. (1997) (140)
- Guidelines for human gene nomenclature. An international system for human gene nomenclature (ISGN, 1987). (1987) (138)
- Chronic neutropenia and abnormal cellular immunity in cartilage-hair hypoplasia. (1970) (134)
- Composite graft repair of Marfan aneurysm of the ascending aorta: results in 100 patients. (1991) (130)
- Plasma growth hormone after arginine infusion. Clinical experiences. (1967) (126)
- HYDROMETROCOLPOS AS A SIMPLY INHERITED MALFORMATION. (1964) (125)
- The defect in Marfan syndrome (1991) (124)
- Evidence for a structural mutation of procollagen type I in a patient with the Ehlers-Danlos syndrome type VII. (1980) (120)
- The Troyer syndrome. A recessive form of spastic paraplegia with distal muscle wasting. (1967) (116)
- Allelism, non-allelism, and genetic compounds among the mucopolysaccharidoses. (1972) (111)
- The association of Waardenburg syndrome and Hirschsprung megacolon. (1979) (108)
- Ehlers-Danlos syndrome with abnormal collagen fibrils, sinus of Valsalva aneurysms, myocardial infarction, panacinar emphysema and cerebral heterotopias. (1981) (103)
- A sex-linked recessive form of spastic paraplegia. (1962) (100)
- A new discipline, a new name, a new journal (1987) (99)
- Partial androgen insensitivity: the Reifenstein syndrome revisited. (1977) (97)
- A study of cardiovascular risk in heterozygotes for homocystinuria. (1981) (96)
- The Metabolic Basis of Inherited Disease (2015) (95)
- The Beckwith-Wiedmann syndrome. (1970) (95)
- A form of vascular disease relatively frequent in the Orient (1962) (92)
- Hereditary benign and malignant lesions of the large bowel (1974) (90)
- Inheritance of Ehlers-Danlos type IV syndrome. (1977) (90)
- The tricho-dento-osseous (TDO) syndrome. (1972) (89)
- A new oculocerebral syndrome with hypopigmentation. (1967) (88)
- Surgical management of patients with the Marfan syndrome and dilatation of the ascending aorta. (1981) (88)
- Growth-Hormone Deficiency in Man: An Isolated, Recessively Inherited Defect (1966) (88)
- VENTRICULAR FIBRILLATION PRECIPITATED BY CARDIAC CATHETERIZATION: Complete Recovery of the Patient After Forty-Five Minutes (1950) (85)
- Ellis-van Creveld syndrome and the Amish (2000) (85)
- The differentiation of organic and "innocent" systolic murmurs. (1962) (82)
- Spondylocostal dysplasia. A dominantly inherited form of short-trunked dwarfism. (1968) (82)
- A prospectus on the prevention of aortic rupture in the Marfan syndrome with data on survivorship without treatment. (1971) (81)
- Parental age effects on the occurrence of new mutations for the Marfan syndrome (1972) (81)
- Evidence for genetic heterogeneity in malignant hyperthermia susceptibility. (1991) (79)
- Genes conserved in yeast and humans. (1994) (79)
- Heritable disorders of connective tissue. III. The Marfan syndrome. (1955) (78)
- Phenotypic diversity, allelic series and modifier genes (1994) (78)
- GENETIC STUDIES OF THE AMISH, BACKGROUND AND POTENTIALITIES. (1964) (78)
- The morbid anatomy of the human genome: chromosomal location of mutations causing disease. (1993) (77)
- Hydroxylysine-deficient skin collagen in a patient with a form of the Ehlers-Danlos syndrome. (1974) (75)
- The nosology of the mucopolysaccharidoses. (1969) (75)
- Acrodysostosis. A syndrome of peripheral dysostosis, nasal hypoplasia, and mental retardation. (1971) (72)
- Observations Suggesting Allelism of the Achondroplasia and Hypochondroplasia Genes (1973) (71)
- HEREDITARY MALE PSEUDOHERMAPHRODITISM WITH HYPOGONADISM, HYPOSPADIAS, AND GYNECOMASTIA: REIFENSTEIN'S SYNDROME. (1965) (71)
- CLINICAL, GENETIC AND ELECTROCARDIOGRAPHIC STUDIES IN CHILDHOOD MUSCULAR DYSTROPHY (1961) (70)
- New syndrome manifested by mandibular hypoplasia, acroosteolysis, stiff joints and cutaneous atrophy (mandibuloacral dysplasia) in two unrelated boys. (1971) (69)
- HYPERAPOBETALIPOPROTEINAEMIA IN TWO FAMILIES WITH XANTHOMAS AND PHYTOSTEROLAEMIA (1981) (68)
- Theophylline blood levels after oral, rectal and intravenous administration, and correlation with diuretic action. (1950) (68)
- Composite Graft Repair of Marfan Aneurysm of the Ascending Aorta: Results in 150 Patients (1994) (67)
- THE DISTRIBUTION OF CERTAIN GENES IN THE OLD ORDER AMISH. (1964) (66)
- Chorioretinopathy with hereditary microcephaly. (1966) (66)
- The acoustic basis of the chest examination; studies by means of sound spectrography. (1955) (65)
- Chromosomal variation in man: catalog of chromosomal variants and anomalies. (1975) (64)
- The Kniest syndrome. (1975) (64)
- The Marfan syndrome and the cardiovascular surgeon. (1996) (63)
- Current trends in mapping human genes (1991) (63)
- Metabolic studies in the African pygmy. (1972) (63)
- A heritable syndrome of craniosynostosis, short thin hair, dental abnormalities, and short limbs: cranioectodermal dysplasia. (1977) (63)
- Genetical linkage between the loci for glucose‐6‐phosphate dehydrogenase deficiency and colour‐blindness in American Negroes (1962) (63)
- Small deletions in the type II collagen triple helix produce kniest dysplasia. (1999) (63)
- THE EVALUATION OF PATIENTS WITH EALES' DISEASE (1983) (62)
- Relative frequency of the Hurler and Hunter syndromes. (1970) (61)
- A Genetical View of Cardiovascular Disease: The Lewis A. Conner Memorial Lecture (1964) (61)
- The status of online Mendelian inheritance in man (OMIM) medio 1994. (1994) (60)
- Genetic aspects of clinical endocrinology. (1968) (60)
- The anatomy of the human genome: a neo-Vesalian basis for medicine in the 21st century. (2001) (60)
- Molecular order in mucolipidosis II and III nomenclature (2008) (60)
- Diabetes mellitus and sexual ateliotic dwarfism: a comparative study. (1970) (59)
- Peripheral subresponsiveness to human growth hormone in the African pygmies. (1969) (59)
- Gonadal mosaicism in pseudoachondroplasia. (1987) (58)
- The 3-M syndrome: a heritable low birthweight dwarfism. (1987) (58)
- Echocardiographic assessment of cardiovascular abnormalities in the Marfan syndrome. Comparison with clinical findings and with roentgenographic estimation of aortic root size. (1983) (58)
- Mucolipidosis III (pseudo-Hurler polydystrophy): Clinical and laboratory studies in a series of 12 patients. (1975) (58)
- Chromosomal variation in man: catalog of chromosomal variants and anomalies. (1975) (57)
- Editorial: Genetics and the Nature of Essential Hypertension (1960) (57)
- The human gene map. (1986) (57)
- Mucopolysaccharidosis VI (Maroteaux-Lamy's disease). (1970) (56)
- Genetic linkage confirmed between the locus for myotonic dystrophy and the ABH-secretion and Lutheran blood group loci. (1972) (56)
- A nomenclature for constitutional disorders of bone. (1971) (55)
- Stiff skin syndrome. (1971) (55)
- The mast syndrome. A recessively inherited form of presenile dementia with motor disturbances. (1967) (55)
- Mutation nomenclature: Nicknames, systematic names, and unique identifiers (1996) (55)
- The morbid anatomy of the human genome: a review of gene mapping in clinical medicine (1). (1987) (55)
- Genetic characteristics of the HeLa cell. (1976) (54)
- Linkage of the loci for the nail-patella syndrome and adenylate kinase. (1969) (54)
- Genetics and biochemistry of variant human phenotypes (1989) (54)
- The human genome through the eyes of a clinical geneticist. (1982) (53)
- The anatomy of the human genome. (1980) (53)
- Osteochondritis dissecans with associated malformations in two brothers. A review of familial aspects. (1967) (53)
- Ataxia-telangiectasia and Swiss-type agammaglobulinemia. Two genetic disorders of the immune mechanism in related Amish sibships. (1966) (52)
- Electroretinography and fundus oculi findings in Hurler's disease and allied mucopolysaccharidoses. (1965) (52)
- The growth and development of human genetics as a clinical discipline. (1975) (52)
- Seckel's bird-headed dwarfism. (1967) (51)
- Recessive inheritance of a congenital malformation syndrome: unilateral absence deformity of leg and congenital cataracts. (1968) (51)
- Toward a complete map of the human genome. (1987) (50)
- Azure lunulae; an unusual change in the fingernails in two patients with hepatolenticular degeneration (Wilson's disease). (1958) (49)
- Autosomal dominant postaxial polydactyly, nail dystrophy, and dental abnormalities map to chromosome 4p16, in the region containing the Ellis-van Creveld syndrome locus. (1997) (48)
- Genomics: structural and functional studies of genomes. (1997) (48)
- Inbreeding and prereproductive mortality in the Old Order Amish. I. Genealogic epidemiology of inbreeding. (1987) (47)
- Roentgen findings in mucolipidosis III (Pseudo-Hurler polydystrophy). (1973) (47)
- Simulation of genetic mucopolysaccharidoses in normal human fibroblasts by alteration of pH of the medium. (1972) (46)
- Three forms of dominant amyloid neuropathy. (1981) (46)
- X-linked colobomatous microphthalmos and other congenital anomalies. A disorder resembling Lenz's dysmorphogenetic syndrome. (1971) (45)
- The anatomy of the human genome. (1980) (45)
- The major mutation in the RMRP gene causing CHH among the Amish is the same as that found in most Finnish cases (2003) (44)
- Lactation in the absence of human growth hormone. (1968) (44)
- Recent advances in the gene map of inherited eye disorders: primary hereditary diseases of the retina, choroid, and vitreous. (1994) (44)
- Basic defects in Marfan syndrome. (1981) (44)
- The effect of lithium on the electrocardiogram of animals and relation of this effect to the ratio to the intracellular and extracellular concentrations of potassium. (1954) (44)
- Isolated human growth hormone deficiency. 3. Insulin secretion in sexual ateliotic dwarfism. (1968) (43)
- The iduronidase-deficient mucopolysaccharidoses: clinical and roentgenorgraphic features. (1976) (43)
- Medical genetics 1960 (1961) (42)
- The morbid anatomy of the human genome (1988) (41)
- A 60-year tale of spots, maps, and genes. (2006) (40)
- Medical Genetic Studies of the Amish: Selected Papers (1978) (40)
- Hereditary disorders of connective tissue. (1959) (40)
- Occult radiopaque jaw lesions in familial adenomatous polyposis coli and hereditary nonpolyposis colorectal cancer. (1987) (40)
- HUGO news. The Human Genome Organisation: history, purposes, and membership. (1989) (39)
- A metabolic and hormonal basis for classifying ateliotic dwarfs. (1969) (39)
- Editorial: The Genetic Mucopolysaccharidoses (1965) (39)
- BACTEROIDES INFECTIONS CLINICAL, BACTERIOLOGICAL AND THERAPEUTIC FEATURES OF FOURTEEN CASES (1953) (39)
- Constancy of the length of human Y chromosome. (1969) (39)
- Erythropoietic protoporphyria. A clinical and genetic study. (1970) (38)
- Report of the Committee on Terminology. (1975) (38)
- Familial congenital bicuspid aortic valve: secondary calcific aortic stenosis and aortic aneurysm. (1977) (38)
- Obstetric and gynecologic considerations of dwarfism. (1970) (37)
- Keratosulfate-chondroitin sulfate peptide from normal urine and from urine of patients with Morquio syndrome (mucopolysaccharidosis IV). (1968) (37)
- Corneal dystrophies associated with abnormalities of mucopolysaccharide metabolism. (1965) (37)
- On the naming of clinical disorders, with particular reference to eponyms. (1998) (37)
- Hydrocephalus and papilledema in the Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI). (1970) (36)
- Congenital cystic disease of the lung with progressive pulmonary fibrosis and carcinomatosis. (1958) (36)
- Medical genetic studies in the Amish: Historical perspective (2003) (35)
- Report of the Committee on Comparative Mapping. (1985) (35)
- Cloning of multiple keratin 16 genes facilitates prenatal diagnosis of pachyonychia congenita type 1 (1999) (35)
- Reactive perforating elastosis: a feature of certain genetic disorders. (1962) (34)
- Heritable disorders of connective tissue. V. Osteogenesis imperfecta. (1956) (34)
- Multiple Forms of the Ehlers-Danlos Syndrome (1974) (34)
- METAPHYSEAL DYSOSTOSIS AND THIN HAIR: A "NEW" RECESSIVELY INHERITED SYNDROME? (1964) (34)
- The Morbid Anatomy of the Human Genome: A REVIEW OF GENE MAPPING IN CLINICAL MEDICINE (First of Four Parts) (1986) (34)
- Fever with dissecting aneurysm of the aorta. (1976) (34)
- High-resolution genetic mapping of the cartilage-hair hypoplasia (CHH) gene in Amish and Finnish families. (1994) (33)
- Acrokeratosis verruciformis (Hopf). A follow-up study. (1962) (33)
- An unusual variety of endocrine dwarfism: subresponsiveness to growth hormone in a sexually mature dwarf. (1968) (33)
- A novel dysmorphic syndrome with open calvarial sutures and sutural cataracts maps to chromosome 14q13-q21 (2003) (33)
- Constrictive Pericarditis Following Traumatic Hemopericardium (1955) (33)
- Recurrence risks for nonsyndromic external ear malformations. (1979) (32)
- ABH secretor status of the fetus: a genetic marker identifiable by amniocentesis. (1971) (32)
- FARABEE'S BRACHYDACTYLOUS KINDRED REVISITED. (1963) (32)
- Medical genetics. A 40-year perspective on the evolution of a medical specialty from a basic science. (1993) (32)
- Duchenne's Muscular Dystrophy and the Xg Blood Groups: a Search for Linkage (1965) (31)
- Pinnal Calcification: Observations in Systemic Diseases Not Associated with Disordered Calcium Metabolism (1962) (30)
- Heritable disorders of connective tissue. VI. Pseudoxanthoma elasticum. (1956) (30)
- THE ROYAL HEMOPHILIA. (1965) (30)
- Inbreeding and prereproductive mortality in the Old Order Amish. III. Direct and indirect effects of inbreeding. (1987) (30)
- Immunologic studies of cartilage-hair hypoplasia in the Amish. (1981) (29)
- The gene map of Homo sapiens: status and prospectus. (1986) (28)
- Marcella O'Grady Boveri (1865-1950) and the chromosome theory of cancer. (1985) (28)
- Boeck's sarcoid of the stomach with comments on the etiology of regional enteritis. (1953) (28)
- Further observations on the determination of the isoniazid inactivator phenotype. (1961) (27)
- Cutaneous histologic features in Ehlers-Danlos syndrome: study of 21 patients. (1979) (27)
- Chronic constrictive pericarditis. I. Some clinical and laboratory observations. (1952) (27)
- Genetic factors in diseases of connective tissue; a survey of the present state of knowledge. (1959) (26)
- Ciba Foundation Symposium on Biochemistry of Human Genetics. (1960) (26)
- THE LINKAGE RELATIONS OF HEMOPHILIA A AND HEMOPHILIA B (CHRISTMAS DISEASE) TO THE XG BLOOD GROUP SYSTEM. (1963) (26)
- The YY syndrome. (1968) (26)
- Amish demography. (1970) (26)
- Clinical and probable genetic heterogeneity within mucopolysaccharidosis. II. Report of a family with a mild form. (1972) (25)
- Mechanisms in genetic diseases of man (1957) (25)
- Medical genetics 1961 (1962) (25)
- Molecular Defects in Collagen (1975) (25)
- Type II syndactyly. (1968) (24)
- Tay-Sachs disease: high gene frequency in a non-Jewish population. (1975) (24)
- General Tom Thumb and other midgets. (1967) (24)
- Genetics and public health. (1958) (23)
- Recessive early-onset neural deafness. (1967) (23)
- Abstracts of workshop presentations (Part 13 of 13) (1985) (23)
- Heritable disorders of connective tissue. VII. The Hurler syndrome. (1956) (23)
- Controversy in human genetics: founder effect in Tay-Sachs disease. (1972) (22)
- Prophylactiv use of propranolol in the Marfan syndrome to prevent aortic dissection. (1977) (22)
- GENERALIZED GENETIC DISORDERS OF THE OSSEOUS SKELETON. (1965) (22)
- Spectral phonocardiography: clinical studies. (1954) (22)
- Human genetics: the last 35 years, the present, and the future. (1992) (22)
- BUERGER SYNDROME IN THE ORIENT (1961) (22)
- 4 The Clinical Behavior of Genetic Disease: Selected Aspects (1964) (22)
- Statement on Guidance for Genetic Counseling in Advanced Paternal Age (2007) (22)
- Drainage of right pulmonary vein into inferior vena cava; report of a case, with a radiologic analysis of the principal types of anomalous venous return from the lung. (1955) (21)
- Chronic constrictive pericarditis. II. Electrokymographic studies and correlations with roentgenkymography, phonocardiography, and right ventricular pressure curves. (1952) (21)
- [Homocystinuria and Marfan's syndrome]. (1967) (21)
- The mapping of human chromosomes. (1971) (20)
- Abstracts of workshop presentations (Part 2 of 16) (1987) (20)
- Sexual ateliotic dwarfism: a recessively inherited isolated deficiency of growth hormone. (1966) (20)
- MEDICAL GENETICS 1962. (1963) (19)
- Online Mendelian Inheritance in Man (OMIM), a knowledgebaseofhumangenesandgeneticdisorders (2005) (19)
- The splitting of heart sounds; a spectral phonocardiographic evaluation of clinical significance. (1955) (19)
- An Inherited Small Extra Chromosome: A Mother with 46,XX,t(17;22) (p1;q1) and a Son with 47,XY,+der(22) mat (1973) (19)
- Heritable disorders of connective tissue. IV. The Ehlers-Danlos syndrome. (1956) (19)
- Familial agoitrous cretinism accompanied by musclar hypertrophy. (1968) (19)
- Cardiovascular risk in heterozygotes for homocystinuria. (1982) (19)
- Abstracts of workshop presentations (Part 6 of 16) (1987) (19)
- DNA: Promise and Peril (2008) (19)
- The Gordon Wilson Lecture: The clinical legacy of Jonathan Hutchinson (1828-1913): syndromology and dysmorphology meet genomics. (2005) (18)
- Genetics and dermatology or if I were to rewrite Cockayne's Inherited Abnormalities of the Skin. (1973) (18)
- Spectral phonocardiographic demonstratrions of selected varieties of cardiovascular sounds. (1955) (18)
- Primordial dwarfism and ectopia lentis. (1955) (18)
- Metabolic effects of human growth hormone in the African pygmy. (1968) (18)
- The clinical observations of Jonathan Hutchinson. (1952) (18)
- Clinical variability in the Marfan syndrome(s). (1979) (17)
- Genetic studies in American inbred populations with particular reference to the Old Order Amish. (1973) (17)
- Family-oriented follow-up. (1969) (17)
- Echocardiographic recognition of silent aortic root dilatation in Marfan's syndrome. (1977) (17)
- Growth hormone in African pygmies. (1967) (17)
- PYRUVATE KINASE DEFICIENT HEMOLYTIC ANEMIA IN AN AMISH ISOLATE. (1965) (17)
- The ethnic distribution of disease in the United States. (1967) (17)
- The Bell Curve: statement by the NIH-DOE Joint Working Group on the Ethical, Legal, and Social Implications of Human Genome Research. (1996) (17)
- Generalized Intestinal Polyposis and Melanin Spots of the Oral Mucosa, Lips and Digits (Concluded): A Syndrome of Diagnostic Significance (1949) (16)
- Genetic factors in cardiovascular diseases. I. The four major types of cardiovascular disease. (1959) (16)
- Allelism, non-allelism and genetic compounds among the mucopolysaccharidoses: corrective factors in nosology, genetics and therapy. (1972) (16)
- Progress in medical genetics: map-based gene discovery and the molecular pathology of skeletal dysplasias. (1996) (16)
- Procollagen peptidase deficiency in a form of the Ehlers-Danlos syndrome. (1973) (16)
- The Human Gene Map 15 November 1983 (1984) (15)
- The problem of fever in patients with valvular heart disease. (1957) (15)
- GENETIC FACTORS IN CARDIOVASCULAR DISEASES * (1961) (15)
- The morbid anatomy of the human genome: chromosomal location of mutations causing disease (update 1 December 1993). (1994) (15)
- Heritable disorders of connective tissue. VIII. Concluding comments. Introduction; fibrodysplasia ossificans progressiva; osteopoikilosis; Leri's pleonosteosis; Paget's disease of bone; other possible hereditary and generalized disorders of connective tissue; the future in the study of heritable dis (1956) (15)
- Phenotypic diversity of human diseases resulting from allelic series. (1973) (15)
- The Nosology of Genetic Disease (1971) (15)
- History of medical genetics (2013) (15)
- Isolated growth hormone deficiency: studies in pregnancy. (1970) (14)
- SPECTRAL PHONOCARDIOGRAPHIC STUDIES IN CONGENITAL HEART DISEASE (1956) (14)
- Genetic aspects of respiratory disease. (1963) (14)
- THE GENETIC MUCOPOLYSACCHARIDOSES. (1965) (14)
- History of Classical Hemophilia in a New England Family (1962) (14)
- Inbreeding and prereproductive mortality in the Old Order Amish. II. Genealogic epidemiology of prereproductive mortality. (1987) (14)
- Congenital deafness and Hirschsprung's disease. (1973) (14)
- A model of its kind. A century of medicine at Johns Hopkins. (1989) (14)
- Conductive hearing loss and malformed low-set ears, as a possible recessive syndrome. (1969) (14)
- A plan for reorganization of the Osler Medical Service. (1975) (13)
- Two types of congenital recessive deafness. (1969) (13)
- The genetic aspects of cardiovascular diseases. (1958) (13)
- Forty years of medical genetics. (1989) (13)
- Abstracts of workshop presentations (Part 1 of 13) (1985) (13)
- Mucolipidosis III: clinical and laboratory findings. (1975) (13)
- Historical Note: The Earliest Record of Hemophilia in America? (1962) (13)
- Estrogen treatment of tall stature in girls with the Marfan syndrome. (1977) (13)
- Cochlear deafness, myopia, and intellectual impairment in an Amish family. (1968) (12)
- Carbon-dioxide intoxication in emphysema: emergency treatment by artificial pneumoperitoneum. (1951) (12)
- Hydrocephalus in achondroplasia studied by cisternography. (1972) (12)
- CHROMOSOMES IN MARFAN'S DISEASE (1960) (12)
- Spectral phonocardiography: problems and prospects in the application of the bell sound spectrograph to phonocardiography. (1954) (12)
- Rheumatic restenosis of mitral valve; report of a case with death almost five years after mitral valvulotomy. (1955) (12)
- A Model of Its Kind (1989) (12)
- Recognizable patterns of human malformation: Genetic, embryologic, and clinical aspects. (1971) (12)
- A gene map of congenital malformations. (1994) (11)
- Discussion on mutation nomenclature (1994) (11)
- X-LINKED PHENOTYPES (1966) (11)
- The William Allan Memorial Award Lecture: Genetic nosology: three approaches. (1978) (11)
- Medical genetics, 1959. (1960) (11)
- FEBRILE REACTIONS TO QUINIDINE (1951) (11)
- Vestibular dysfunction in familial dysautonomia. The Riley-Day syndrome. (1975) (11)
- The Biochemical Genetics of Vertebrates Except Man (1967) (11)
- A European family with histidine 58 transthyretin mutation in familial amyloid polyneuropathy (1997) (10)
- AUTOSOMAL DOMINANT PHENOTYPES (1966) (10)
- The human genome through the eyes of Mercator and Vesalius. (1981) (10)
- A survey of neurological disorders in a genetic isolate (1967) (10)
- Heritable disorders of connective tissue. I. The clinical behavior of hereditary syndromes. (1955) (10)
- Abstracts of workshop presentations (Part 9 of 13) (1985) (10)
- Some Computer Applications to Problems in Human Genetics (1965) (10)
- The morbid anatomy of the human genome: a review of gene mapping in clinical medicine (2). (1987) (10)
- INBREEDING AND PREREPRODUCTIVE MORTALITY IN THE OLD ORDER AMISH. II. GENEALOGIC EPIDEMIOLOGY OF PREREPRODUCTIVE MORTALITY (1987) (10)
- Human gene mapping 3 : Baltimore Conference (1975) (1976) (10)
- The nature of osteogenesis imperfecta in cats. Evidence that the disorder is primarily nutritional, not genetic, and therefore not analogous to the disease in man. (1963) (10)
- Abstracts of meeting presentations (Part 11 of 11) (1984) (10)
- Abstracts of workshop presentations (Part 12 of 16) (1987) (10)
- Diseases of the Genome (1984) (10)
- Hemophilia in Early New England A Follow-up of Four Kindreds in which Hemophilia Occurred in the Pre-Revolutionary Period (1962) (9)
- Genetics and large-bowel cancer (1974) (9)
- AUTOSOMAL RECESSIVE PHENOTYPES (1966) (9)
- Growth and development in an "inner city" population: an assessment of possible biological and environmental influences. II. The effect of certain maternal characteristics on birth weight, gestational age and intra-uterine growth. (1972) (9)
- Genetic Nosology: Three Approaches (1977) (9)
- The microangiopathic lesions of diabetes mellitus: an evaluation of possible causative factors. (1970) (9)
- Cardiovascular sound in health and disease : being a comprehensive treatise, introduced by a historical survey, illustrated mainly by sound spectrograms (spectral phonocardiograms) and supplemented by an extensive bibliography. With a section on respiratory sound (1958) (9)
- HEREDITY AND DISEASES OF CONNECTIVE TISSUE * (1960) (9)
- THE BECKWITH-WIEDEMANN SYNDROME: THE EXOMPHALOS-MACROGLOSSIA-GIGANTISM SYNDROME (1970) (9)
- Transverse striae distensae in the lumbar area in father and two sons. (1971) (9)
- Abstracts of workshop presentations (Part 12 of 13) (1985) (9)
- DNA light on the Tegernsee giant (1991) (9)
- The Human Gene Map 1 December 1984 (1985) (9)
- Hereditary amyloidosis. (1970) (8)
- Genomic mapping and how it has progressed. (1991) (8)
- 40 years of the annual ‘Bar Harbor Course’ (1960–1999): a pictorial history (1999) (8)
- Report of the committee on unassigned linkage groups. (1976) (8)
- Abstracts of workshop presentations (Part 15 of 16) (1987) (8)
- Ventricular fibrillation precipitated by cardiac catheterization; complete recovery of the patient after 45 minutes. (1950) (8)
- Frederick Parkes WEBER--1863-1962. (1963) (8)
- An exhibition of the history of cardiovascular sound including the evolution of the stethoscope. (1957) (8)
- A short course in medical genetics. (1961) (8)
- Symposium on inborn errors of metabolism: mechanisms in genetic diseases of man. (1957) (8)
- A linkage study of the Marfan syndrome 1 (1976) (7)
- Carcinoid cardiovascular disease. (1956) (7)
- First South-North Human Genome Conference. (1992) (7)
- Growth and development in an "inner city" population: an assessment of possible biological and environmental influences. I. Intra-uterine growth. (1972) (7)
- DIASTROPHIC DWARFISM (1972) (7)
- Isolated human growth hormone deficiency. IV. The response of sexual ateliotic dwards to exogenous growth hormone. (1968) (7)
- The Genetic Approach to the Study of Gastrointestinal Disease (1960) (7)
- The diagnosis of organic mitral stenosis in the presence of sickle-cell anemia. (1953) (7)
- Genetics in medicine and medicine in genetics. (1963) (7)
- THE BECKWITH‐WIEDEMANN SYNDROME: THE EXOMPHALOS‐MACROGLOSSIA-GIGANTISM SYNDROME REPORT OF TWO CASES AND REVIEW OF THE LITERATURE (1970) (7)
- More speculation on Marfan syndrome. (1972) (7)
- Osler as a medical geneticist. (1976) (7)
- Editorial: Natural Selection and Contemporary Cardiovascular Disease (1963) (7)
- MEDICAL GENETICS 1963. (1964) (7)
- Abstracts of workshop presentations (Part 10 of 16) (1987) (7)
- The human genome through the eyes of a clinical geneticist. (1982) (7)
- A catalog of X-linked traits in man. (1962) (7)
- Heritable disorders of connective tissue. II. The biology of normal connective tissue. (1955) (7)
- Gene candidate (1990) (7)
- Growth hormone in African pygmies. (1968) (7)
- The Human Genome Project and clinical medicine. (1991) (7)
- Abstracts of meeting presentations (Part 5 of 11) (1979) (6)
- The bar harbor course in medical genetics. (1972) (6)
- Report of the Committee on Unassigned Linkage Groups. (1984) (6)
- Treatment of mucopolysaccharidoses. (1974) (6)
- Proceedings of the conference on genetic and biochemical variability in response to alcohol. (1981) (6)
- Rouanet of Paris and New Orleans; experiments on the valvular origin of the heart sounds 125 years ago. (1958) (6)
- Fourteen genetic misconceptions. (1971) (6)
- Bardet-Biedl Syndrome in an African-American Patient: Should the Diagnostic Criteria Be Expanded to Include Hydrometrocolpos? (2007) (6)
- Ethnic distribution of disease in non-Jews. (1973) (6)
- Spectral phonocardiography. (1959) (6)
- Blood groups in two Amish demes (1967) (6)
- The classification of heritable disorders of connective tissue. (1975) (6)
- Abstracts of meeting presentations (Part 2 of 11) (1982) (6)
- Acquired and heritable defects in collagen synthesis and fibrogenesis. (1974) (5)
- X-linked muscular dystrophy, benign form with contractures. (1971) (5)
- Abstracts of meeting presentations (Part 10 of 11) (1984) (5)
- Sarcoidosis. A case study in nosology. (1986) (5)
- Abstracts of meeting presentations (Part 8 of 11) (1984) (5)
- Constrictive pericarditis: Psychologic aspects of convalescence following pericardectomy (1961) (5)
- Abstracts of meeting presentations (Part 2 of 5) (1979) (5)
- The relative frequency of the Hurler and Hunter syndromes. (1970) (5)
- Victor McKusick and the History of Medical Genetics (2012) (5)
- The Genesis of Musical Murmurs (1957) (4)
- Cancer of the cervix in the Amish. (1967) (4)
- Osler's textbook revisited : reprint of selected sections with commentaries (1967) (4)
- Abstracts of workshop presentations (Part 3 of 16) (1987) (4)
- Transverse vaginal septum (hydrometrocolpos). (1971) (4)
- Profound first-degree atrioventricular block. A 30-year study. (1978) (4)
- Abstracts of meeting presentations (Part 3 of 11) (1979) (4)
- Committee on Clinical Disorders (1987) (4)
- Abstracts of workshop presentations (Part 7 of 16) (1987) (4)
- Report of the Committee on Unassigned Syntenic Groups and Theoretical Considerations. (1975) (4)
- Abstracts of workshop presentations (Part 1 of 16) (1987) (4)
- Medical genetics 1958-1960 : an annotated review (1962) (4)
- Constrictive endocarditis; report of a case. (1952) (4)
- Computers in research in human genetics. (1966) (4)
- Reviews in molecular medicine. (1995) (4)
- Twenty-five years in medical genetics and experimental mammalian genetics with particular reference to the gene map of mouse and man. (1987) (4)
- Medical genetics, 1961-1963 : an annotated review (1966) (4)
- From Karl Landsteiner to Peter Agre: 100 years in the history of blood group genetics (2004) (4)
- Pseudoachondroplastic dysplasia: pathodynamics and management. (1974) (4)
- No linkage between HL-A and haptoglobin loci. (1972) (4)
- NATURAL SELECTION AND CONTEMPORARY CARDIOVASCULAR DISEASE. (1963) (4)
- A. McGehee Harvey: 30 July 1911 - 8 May 1998. (2000) (4)
- A kindred of koilonychia: linkage data. (1970) (4)
- The Stoltzfus blood group, a new polymorphism in man. (1969) (4)
- An autosomal dominant form of arthrogryposis multiplex congenita (AMC) with unusual dermatoglyphics (1977) (4)
- Félix Savart (1791–1841), Physician-PhysicistEarly Studies Pertinent to the Understanding of Murmurs (1959) (4)
- Osler's legacy : the Department of Medicine at Johns Hopkins, 1889-1989 (1990) (4)
- The ballistocardiogram in constrictive pericarditis before and after pericardiectomy. (1952) (4)
- No graying of Grand Rounds at Hopkins. (1979) (4)
- The new genetics and clinical medicine: a summing up. (1988) (3)
- Reflecting the bright future of genomics (2001) (3)
- Osborne Reynolds of Manchester: contributions of an engineer to the understanding of cardiovascular sound. (1959) (3)
- Homocystinuria simulating the Marfan syndrome. (1965) (3)
- John Hilton Edwards 1928–2007 (2007) (3)
- Abstracts of workshop presentations (Part 8 of 16) (1987) (3)
- The Morbid Anatomy of the Human Genome: The Role of Gene Mapping in Clinical Medicine (1990) (3)
- Diseases of the genome. An interview with Victor A. McKusick. (1984) (3)
- Mapping the Human Genome: Retrospective, Perspective and Prospective (2016) (3)
- Two "new" autosomal recessive mental retardation syndromes observed among the Amish. (1977) (3)
- Tolbutamide and Achondroplasia (1974) (3)
- The genetic behaviour of heritable disorders of connective tissue. (1957) (3)
- Heritable Disorders of Connective Tissue: A Personal Account of the Origins, Evolution, Validation, and Expansion of a Concept (1982) (3)
- Human genetics. (1970) (3)
- Serendipity in St. Helena: A Genetical and Medical Study of an Isolated Community (1970) (3)
- Ascertainment of genetic disease in relatives of affected persons. (1973) (3)
- Ehlers-Danlos syndrome with aortic aneurysm. (1975) (3)
- Abstracts of workshop presentations (Part 11 of 13) (1985) (3)
- Abstracts of workshop presentations (Part 4 of 16) (1987) (3)
- VENTRICULAR FIBRILLATION PRECIPITATED BY CARDIAC CATHETERIZATION (2017) (2)
- Genetics and Medicine in the United States, 1800-1922 (review) (1996) (2)
- Editorial: Multiple forms of the Ehlers-Danlos syndrome. (1974) (2)
- METHODS IN HUMAN GENETICS, AS APPLICABLE TO THE STUDY OF CARDIOVASCULAR DISEASE. (1964) (2)
- Principles of Internal Medicine. T. R. Harrison , Raymond D. Adams , Paul B. Beeson , William H. Resnik , George W. Thorn , M. M. Wintrobe (1956) (2)
- Human Chromosome Mapping Newsletter (1972) (2)
- APPROACHES AND METHODS IN HUMAN GENETICS. (1964) (2)
- Medical genetics. (1976) (2)
- Consanguineous Marriage. (1964) (2)
- MEDICINE (1922– ): Biography of a Medical Journal (1985) (2)
- Refsum's disease (heredopathia atactica polyneuriformis). (1971) (2)
- Serum seromucoid levels in the Marfan syndrome. (1962) (2)
- Report of the committee on unassigned linkage groups. (1979) (2)
- Genetic disorders of the human nervous system a commentary (1982) (2)
- The study of mitral regurgitation by roentgen kymography with observations on the movement of cardiac calcifications. (1954) (2)
- Genetics and Cardiovascular Disease--1981 (1982) (2)
- The state of the circulation during ventricular fibrillation. (1950) (2)
- Cloning of multiple K16 genes and genotype-phenotype correlation in pachyonychia congenita type I and focal PPK (1998) (2)
- Abstracts of workshop presentations (Part 4 of 13) (1985) (2)
- GENETIC FACTORS IN CARDIOVASCULAR DISEASE. (1964) (2)
- Persisting memories of Cyril Clarke in Baltimore (2001) (2)
- Abstracts of workshop presentations (Part 14 of 16) (1987) (2)
- Bacteroides infections: some clinical and therapeutic features. (1952) (2)
- Metachromasia elaborated. (1970) (2)
- Model system of craniofacial growth: Marfan's syndrome. (1971) (2)
- The molecular bases of certain inherited diseases of connective tissues involving collagen. (1975) (2)
- Abstracts of workshop presentations (Part 11 of 16) (1987) (2)
- The illnesses of the great and near-great. (1955) (2)
- The last twenty years: an overview of advances in medical genetics. (1981) (2)
- Serum cholesterol values in a hospital population. (1960) (2)
- Abstracts of workshop presentations (Part 5 of 16) (1987) (2)
- Medical Applications of Mapping and Sequencing the Human Genome (Human Genomics) (1988) (2)
- Diseases of the aorta. (1958) (2)
- Corneal clouding in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). (1971) (2)
- The genetics of birth defects: the gene map of the human chromosomes in relation to diagnosis and management. (1981) (2)
- Instrumentation for Spectral Phonocardiography (1956) (2)
- Some hemodynamic effects of Hufnagel operation for aortic regurgitation; studies in models and a patient. (1954) (2)
- Inheritance ofEhlers-Danlos typeIVsyndrome (1977) (2)
- Footprints of Previous Pericardial Disease (1962) (1)
- Heritable Oral Handicaps (1974) (1)
- Genes, molecules and deformities. (1964) (1)
- Symphalangism and deafness. (1971) (1)
- A grade 6 systolic murmur. (1999) (1)
- Medical Genetics: The Unifying Subject (1969) (1)
- Walter Stanborough Sutton (1961) (1)
- Human Chromosomes in a New Light (1972) (1)
- Clinical genetics: a neo-Vesalian view of the past and the future. (1982) (1)
- JUMPING FRENCHMEN OF MAINE. (1965) (1)
- The Past and Future Decade (1976) (1)
- Advisory statement by the panel on DNA testing of Abraham Lincoln's tissue. (1991) (1)
- Abstracts of workshop presentations (Part 5 of 13) (1985) (1)
- The minutes of the Johns Hopkins Medical History Club, 1890 to 1894; reflections on the role of the organization. (1953) (1)
- Abstracts of meeting presentations (Part 6 of 11) (1984) (1)
- Human genetics. (1973) (1)
- New perspectives in the human chondrodysplasias. (1988) (1)
- Cystathionine in the brains of tree shrews and other mammals (1974) (1)
- Mikamo lectures. Genetics and cardiovascular disease--1981. (1982) (1)
- The birth defects conferences: the last ten years and the next. (1978) (1)
- A700 MALIGNANT HYPERTHERMIA SUSCEPTIBILITY(MHS)HORMONE SENSITIVE LIPASE SUGGESTED AS A CANDIDATE GENE (1990) (1)
- A Conversation with Victor A. McKusick, MD, University Professor of Medical Genetics, The Johns Hopkins University School of Medicine (BetaCam SP) (1997) (1)
- Abstracts of workshop presentations (Part 2 of 13) (1985) (1)
- Inborn Errors of Metabolism in Humans. Monographs Based Upon Proceedings of the International Symposium Held in Interlaken, Switzerland, September 2-5, 1980.Forrester Cockburn , Richard Gitzelmann (1984) (1)
- Human Genomics 1986: Toward a Complete Gene Map and Nucleotide Sequence of the Human Genome (1987) (1)
- Abstracts of workshop presentations (Part 16 of 16) (1987) (1)
- Dedication to the memory of two giants of endocrinology. (1971) (1)
- Life Stress and Essential Hypertension. A Study of Circulatory Adjustments in Man.Stewart Wolf , Philippe V. Cardon, Jr. , Edward M. Shepard , Harold G. Wolff (1956) (1)
- Hereditary Amyloidosis, Indiana Type. (1967) (1)
- Medical and experimental mammalian genetics : a perspective (1987) (1)
- Introduction: aims and themes of the second conference on the clinical delineation of birth defects. (1971) (1)
- Molecular genetics in clinical practice: the series begins. (1997) (1)
- Clinical genetics at a populational level. The ethnicity of disease in the United States. (1966) (1)
- Abstracts of meeting presentations (Part 9 of 11) (1984) (1)
- Genetics in relation to cardiovascular diseases (1958) (1)
- The Century of Mendelism (2002) (1)
- Pachyonychia congenita in father and son. (1971) (1)
- Discussion of classification. (1974) (1)
- The William Allan Memorial Award. (1984) (1)
- Bernhard Bang: physician, veterinarian, scientist, 1848-1932. (1954) (1)
- PROBABLE ASSIGNMENT OF THE DUFFY BLOOD GROUP LOCUS TO CHROM1OSOMlE 1 IN JIAN* BY ROGER P. DON-AIHIJE, WILMA B. BIAS, JAMES H. IRENW1CK, AND (2016) (1)
- Nemaline myopathy: second autopsied case in a previously reported family. (1971) (1)
- CALCIFICATION OF AURICULAR CARTILAGE. (1964) (1)
- Congenital malformations : proceedings of the Third International Conference the Hague, the Netherlands, 7-13 September, 1969 (1971) (1)
- Human chromosome fluorescence. (1971) (1)
- A healthy tension in translational research (2014) (1)
- Abstracts of workshop presentations (Part 7 of 13) (1985) (1)
- LACTATION IN THE ABSENCE OF HUMAN GROWTH HORMONE (1969) (1)
- A concise outline of medical genetics or what the practitioner should know about medical genetics. (1966) (1)
- Abstracts of workshop presentations (Part 9 of 16) (1987) (1)
- The second conference on the Clinical Delineation of Birth Defects. Part VI. Nervous system. Dedication to Frank R. Ford, M.D. (1971) (1)
- Abstracts of workshop presentations (Part 6 of 13) (1985) (1)
- Foreword: The making of a syndromologist (1993) (1)
- Report of the committee on unassigned linkage groups. Oslo Conference (1981): Sixth International Workshop on Human Gene Mapping. (1982) (1)
- The Human Genome Project and clinical medicine: adenomatous polyposis coli and the Marfan syndrome as examples. (1993) (1)
- A new medical genetics series. (1985) (1)
- The morbid anatomy of the human genome: a review of gene mapping in clinical medicine. 4. (1988) (1)
- The morbid anatomy of the human genome: a review of gene mapping in clinical medicine (3). (1987) (1)
- A mental retardation syndrome with peripheral dysostosis and pug nose. (1971) (0)
- Book Review:An Introduction to the Study of Disease. William Boyd (1963) (0)
- Abstracts (1953) (0)
- The Joseph Earle Moore Clinic (1958) (0)
- DEPIGMENTATION FROM ADHESIVE TAPE (1952) (0)
- Contents, Vol. 46, 1987/ Title Page / Table of Contents (1987) (0)
- Abstracts of workshop presentations (Part 13 of 16) (1987) (0)
- Familial Dysautonomia: Genetic, Clinical and Pathophysiologic Studies. (1966) (0)
- Malformation syndromes : papers presented at the Johns Hopkins Hospital, sponsored by the Johns Hopkins Medical Institutions and the National Foundation-March of Dimes (1975) (0)
- The Century of the Gene (review) (2001) (0)
- Recent results in cancer research. (1968) (0)
- History of Classical Hemophilia in a (2017) (0)
- John Jacob Abel (2015) (0)
- Homocystinuria: Clinical, Genetic, and Pathologic Studies. (1965) (0)
- Abstracts (1954) (0)
- Proceedings: Report of the Committee on Terminology. (1974) (0)
- Correction: Telangiectases, Not Telangiectasias (1987) (0)
- Abstracts (1954) (0)
- Book Review:Behavior Genetics. John L. Fuller, W. Robert Thompson (1961) (0)
- Recent advances inthegene map ofinherited eyedisorders: primary hereditary diseases ofthe retina, choroid, andvitreous (1994) (0)
- Book Review:Annual Review of Medicine. Volume 10. David A. Rytand (1959) (0)
- Cataloging genetic diseases and mapping the genes on chromosomes (1983) (0)
- Cholestasis of pregnancy. (1968) (0)
- Effect of anti-hypertensive drugs on renal blood flow and function. (1955) (0)
- Letter from Victor A. McKusick to Andrei D. Mirzabekov (1989) (0)
- Subject Index Vol. 22, 1978 (1978) (0)
- Book Review:Annual Review of Medicine. Volume 7. 1956. David A. Rytand, William Creger (1956) (0)
- SPECTRAL phonocardiography. (1955) (0)
- Cardiovascular Rehabilitation : Rehabilitation of the Cardiovascular Patient (2015) (0)
- Abstracts of workshop presentations (Part 10 of 13) (1985) (0)
- Letter from Victor A. McKusick to the Committee on DNA Technology in Forensic Science [on the final report and related matters] (1991) (0)
- The effect of certain maternal factors on birth weight, gestational age and intrauterine growth (1972) (0)
- The "father" of modern genetic mapping. An interview with Victor McKusick, M..D. (2000) (0)
- Ciba Foundation Tenth Anniversary Symposium on Significant Trends in Medical Research. (1960) (0)
- Genetic Mechanisms in Human Disease (2015) (0)
- Reviewer Acknowledgment (2013) (0)
- Abstracts (1954) (0)
- Alkaptonuria: tracked down to chromosome 3. (1994) (0)
- A tribute to Victor A. McKusick (2008) (0)
- The human gene map in relation to cancer (1989) (0)
- Book Review:Annual Review of Physiology, Vol. 19. Victor E. Hall (1957) (0)
- References to the committee reports (1975) (0)
- [Hereditary disturbances of the connective tissue. Current status]. (1968) (0)
- Letter from Victor A. McKusick to Nobuyuki Nakamura (1989) (0)
- Book Review:Doctors' Offices and Clinics, Medical and Dental. Paul Hayden Kirk, Eugene D. Sternberg (1957) (0)
- Book Review:X-Linked Traits: A Catalog of Loci in Non-Human Mammals. James R. Miller (1991) (0)
- BERNSTEIN BLOOD COAGULATION AND THROMBOEMBOLISM (0)
- The 3d Conference on the clinical delineation of birth defects. Part XII. Skin, hair and nails. Dedication to the memory of Jonathan Hutchinson (1828-1913). (1971) (0)
- Methods in Medical Research.James V. Warren (1958) (0)
- Catalog of mapped human gene markers. (1980) (0)
- VIRCHOW-TROISIER NODE: AN OCCASIONAL CONSPICUOUS MANIFESTATION OF GALLBLADDER CANCER (1953) (0)
- The 2d Conference on the Clinical Delineation of Birth Defects. Part VIII. Eye. Dedication to Frank Burton Walsh, M.D. (1971) (0)
- Committe on clinical disorders. (1987) (0)
- Letter from Victor A. McKusick to Diane Hinton (1991) (0)
- Oral history of Victor McKusick (1999) (0)
- The 3d Conference on the Clinical Delineation of Birth Defects. Part XI. Orofacial Structures. Dedication to the Memory of Jonathan Hutchinson (1828-1913). (1971) (0)
- Evening Panel Discussion (1957) (0)
- Letter from Victor A. McKusick to John L. Fuller (1962) (0)
- Genetic Laboratory Exercises.Eldon J. Gardner (1957) (0)
- Certificate of attendance at the 1962 Bar Harbor Course (sent to Victor McKusick) (1962) (0)
- Biographical Memoirs: A. McGehee Harvey (2000) (0)
- Annual Review of Medicine. Volume 12.David A. Rytand , William P. Creger (1961) (0)
- Nomenclature of syndromes. (1974) (0)
- Dilatation of the Aortic Root in Marfan's Syndrome (1978) (0)
- Victor McKusick, MD (2008) (0)
- Letter from Victor A. McKusick to Harold Jeghers (1948) (0)
- Abstracts (1954) (0)
- BOOK REVIEW (1959) (0)
- Book Review:Classics in Cardiology (Formerly Titled: Cardiac Classics). Fredrick A. Willius, Thomas E. Keys (1963) (0)
- Handbook of Congenital Malformations (1968) (0)
- Letter from Victor A. McKusick to Louis K. Diamond (1981) (0)
- ENDOCRINE EFFECTS ON CIRCULATION (2005) (0)
- Clinical survey. (1957) (0)
- Book Review:The Structure and Function of Skin. William Montagna (1956) (0)
- David Y.‐Y. Hsia … In Memoriam (1972) (0)
- Book Review:Hemophilia and Other Hemorrhagic States. International Symposium, Rome. Kenneth M. Brinkhous, Pietro de Nicola (1960) (0)
- Book ReviewHeritable Disorders in Orthopaedic Practice. (1973) (0)
- New Reviews: Advances in Human Genetics . Vol. 1. Henry Harris and Kurt Hirschhorn, Eds. Plenum, New York, 1970. xii, 340 pp., illus. $19.50. (1970) (0)
- Book Review:Annual Review of Medicine. Volume 11. David A. Rytand (1960) (0)
- Contents, Vol. 32, 1982 (1982) (0)
- Ankylosing Spondylosis in Familial Hypophosphatemia. (1970) (0)
- The Structure and Function of Skin.William Montagna (1956) (0)
- Letter from Victor A. McKusick to Joseph Mori (1968) (0)
- A Passion for DNA: Genes, Genomes, and Society (review) (2002) (0)
- Book Review:L'Heredite en Medecine. Caracteres, Maladies, Correlations. A. Touraine (1956) (0)
- Abstracts of meeting presentations (Part 4 of 11) (1979) (0)
- Multiple Births: The Biology of Twinning in Man . M. G. Bulmer. Clarendon, New York, 1970. x, 206 pp., illus. $6.40. (1970) (0)
- LEPESCHKIN ENDOCARDITIS , MYOCARDITIS , AND PERICARDITIS (2005) (0)
- Abstracts of workshop presentations (Part 8 of 13) (1985) (0)
- Report of the committee on unassigned linkage groups. (1982) (0)
- [Spectral phonocardiography; a new method of analysis of cardiovascular murmurs]. (1955) (0)
- Letter from Victor A. McKusick to James L. Reynolds (1971) (0)
- Subject Index Vol. 25, 1979 (1979) (0)
- Book Review:Your Blood Pressure and How to Live with it. William A. Brams (1956) (0)
- Non-Jewish Population (2006) (0)
- Twenty-fourth annual short course in medical genetics and experimental mammalian genetics: August 1–12, 1983 (1983) (0)
- Advances in medical genetics in the past 30 years. (1991) (0)
- Interview with Victor McKusick, December 20, 1999 (1999) (0)
- Book Review:Disease and the Advancement of Basic Science. Henry K. Beecher (1962) (0)
- Book Review:Progress in Medical Genetics. Volume X. Arthur G. Steinberg, Alexander G. Bearn (1975) (0)
- Medical genetics. (1990) (0)
- Subject index Vol. 40, 1985 (1985) (0)
- Book Review: Gravitational Stress in Aerospace Medicine (1962) (0)
- Textbook of Medical Physiology.Arthur C. GuytonPrinciples of Human Physiology.Charles Lovatt Evans (1956) (0)
- ELECTROCARDIOGRAPHY, VECTOR-CARDIOGRAPHY, AND BALLISTO- CARDIOGRAPHY (2005) (0)
- ABSTRACTS: A Genetical View of Cardiovascular Disease (1963) (0)
- Letter: Tolbutamide and achondroplasia. (1974) (0)
- Clinical Genetics—An Overview. (1971) (0)
- Book Review:Essential Tremor. A Clinical and Genetic Population Study. Tage Larsson, Torsten Sjogren (1961) (0)
- Book Review:Advances in Metabolic Disorders, Volume 2. Rachmiel Levine, Rolf Luft (1966) (0)
- Proposed Collaborative Research Program Between the Medical Out-Patient Department of the Johns Hopkins Hospital, Baltimore, and the U.S.P.H.S. Hospital, Baltimore (1957) (0)
- 2016 ASHG Awards and Addresses. (2017) (0)
- 2006 Curt Stern Award Address. Introductory speech for Hal Dietz. (2007) (0)
- Book Review:Progress in Medical Genetics. Volume VIII. Arthur G. Steinberg, Alexander G. Bearn (1963) (0)
- Collagen Diseases, Including Systemic Lupus Erythematosus, Polyarteritis, Dermatomyositis, Systemic Scleroderma, Thrombotic Thrombocytopenic Purpura.John H. Talbott , R. Moleres Ferrandis (1957) (0)
- Peter John Langford Cook, BA, MB Cantab., PhD Lond. (1982) (0)
- The Biology of Twinning in Man. M. G. Bulmer. Clarendon, New York, 1970. x, 206 pp., illus. $6.40 (1970) (0)
- Mapping and sequencing the human genome: Status, strategies, prospects, and implications (1990) (0)
- Robert Leo Ney (1987) (0)
- BALLISTOCARDIOG-RAPHY, AND PHONOCARDIOGRAPHY (2005) (0)
- Letter from Victor A. McKusick to Seldon E. Bernstein (1974) (0)
- Work and aims of the Joseph Earle Moore Clinic. (1974) (0)
- Pulmonary Arteriovenous Fistula: A Case-Finding Study and Clinico-Laboratory Analysis of 27 Cases (1969) (0)
- Book reviewMolecular biology of Homo sapiens: Cold Spring Harbor Symposia on Quantitative Biology, Vol. LI. Cold Spring Harbor Laboratory, Cold Spring Harbor, NY, 1986. 1229 pp. in two parts (1987) (0)
- Letter: Pleiotropism. (1976) (0)
- Dominant familial arthritis with scoliosis. (1975) (0)
- Book Review:Louis Pasteur. A Great Life in Brief. Pasteur Vallery-Radot, Alfred Joseph (1959) (0)
- Sarcoidosis (1986) (0)
- VECTOR-CARDIOGRAPHY, PHONOCARDIOGRA- PHY AND (2005) (0)
- Abstracts of meeting presentations (Part 1 of 11) (1982) (0)
- Editorial notes: Molecular defects in collagen. (1975) (0)
- Human Heredity. Jean Rostand. Translated by Wade Baskin. Philosophical Library, New York, 1961. 139 pp. $4.75 (1961) (0)
- Biochemistry of Human Genetics (1961) (0)
- Abstracts (1953) (0)
- The Wilhelmine E. Key 1979 Invitational Lecture: The anatomy of the human genome. (1980) (0)
- Letter from Victor A. McKusick to Philip L. Townes (1971) (0)
- Historical perspectives: the understanding and management of genetic disorders. (1989) (0)
- Book Review:Connective Tissue, Thrombosis, and Atherosclerosis. Proceedings of a Conference Held at Princeton, New Jersey, May 12-14, 1958. Irvine H. Page (1960) (0)
- Book Review:Analytical Pathology. Treatises in the Perspective of Biology, Chemistry, and Physics. Robert C. Mellors (1957) (0)
- Subacute Bacterial Endocarditis.Andrew Kerr, Jr. (1956) (0)
- In memoriam. Abner McGhee Harvey. 1911-1998. (1999) (0)
- Subject Index Vol. 32, 1982 (1982) (0)
- Diseases of the pericardium. (1955) (0)
- Book Review:Gaiger & Davies' Veterinary Pathology and Bacteriology. Gwilym O. Davies (1956) (0)
- Abstracts of meeting presentations (Part 7 of 11) (1984) (0)
- SECOND SYMPOSIUM ON CARDIOVASCULAR SOUND (2005) (0)
- A Clinical, Pathological, and Genetic Study of Multiple Neurofibromatosis.Frank W. Crowe , William J. Schull , James V. Neel (1956) (0)
- Memorandum from John L. Fuller and Victor A. McKusick [to staff and students involved in the 1961 Bar Harbor Course in medical genetics] (1961) (0)
- [Application to National Foundation-March of Dimes for Bar Harbor Course funding] (1960) (0)
- Letter from Victor A. McKusick [to fourth-year students in psychiatry-pediatrics trimester] (1957) (0)
- Letter from Victor A. McKusick to the Committee on DNA Technology in Forensic Science [on leak of Chapter 3 and reviewers comments] (1991) (0)
- [METAPHYSIAL DYSOSTOSIS AND MODIFICATIONS OF THE HAIR. A NEW (?) SYNDROME OF AUTOSOMAL RECESSIVE TRANSMISSION]. (1964) (0)
- Letter from Victor A. McKusick to Harry Shwachman (1970) (0)
- Milroy's disease. (1968) (0)
- Book Review:Chronic Illness in a Large City: The Baltimore Study. Chronic Illness in the United States, Volume IV. (1959) (0)
- Letter from Victor A. McKusick to Oskar R. Zaborsky (1991) (0)
- The Peter T. Bohan Lectures on Medicine. (1958) (0)
- Letter from Victor A. McKusick to Margaret Hawkins (1957) (0)
- Progress Report A-1282: A Study of Heritable Disorders of Connective Tissue (1959) (0)
- Book Review:Thalassemia. A Survey of Some Aspects. Modern Medical Monographs. Robin M. Bannerman (1962) (0)
- AN OFFICIAL JOURNAL ofthe AMERICAN HEARTASSOCIATION Editorial Genetics andtheNatureofEssential Hypertension (1960) (0)
- KITCHELL CONGESTIVE HEART FAILURE (2005) (0)
- Marfan's Syndrome (2017) (0)
- An Overview of Advances in Medical Genetics in the Last 30 Years (1989) (0)
- Subject index Vol. 46, 1987 (1987) (0)
- Contents, Vol. 37, 1984 (1984) (0)
- Annual Review of Medicine. Volume 13.David A. Rytand , William P. Creger (1962) (0)
- Nikolai Pavlovich Bochkov (on the 70th Anniversary of His Birth) (2004) (0)
- Book Review:Biographical Memoirs of Fellows of the Royal Society. Volume 2, 1956. (1957) (0)
- Book Review:Bilateral Polycystic Disease of the Kidneys. A Follow-Up of Two Hundred and Eighty-Four Patients and Their Families. O. Z. Dalgaard (1958) (0)
- Acceptance of the George M. Kober Medal. (1990) (0)
- Review of Dr. Parkash's report. (1991) (0)
- Advances in Human Genetics. Vol. 1. Henry Harris and Kurt Hirschhorn, Eds. Plenum, New York, 1970. xii, 340 pp., illus. $19.50 (1970) (0)
- Biographical Memoirs of Fellows of the Royal Society. Volume 1, 1955. A New Series in Continuation of Obituary Notices of Fellows of The Royal Society, Vols. 1-9 (1932-1954). (1957) (0)
- Letter from Victor A. McKusick to the Nomenclature Committee [of the Workshop on Human Gene Mapping] (1976) (0)
- Letter from Victor A. McKusick to Bronwen Loder (1991) (0)
- Genetic factors in cardiovascular disease. II. Disorders of primarily genetic etiology. (1959) (0)
- Book Review:Genetics, Radiobiology and Radiology Proceedings, Mid-Western Conference. Wendell G. Scott, Titus Evans (1960) (0)
- Letter from Victor A. McKusick to Jan Van Eys (1971) (0)
- Book Review:An Introduction to Medical Genetics. J. A. Fraser Roberts (1961) (0)
- James Van Gundia Neel, papers, ca. 1935-1999 (2014) (0)
- Genes, Brain, and Behavior (1991) (0)
- Book Review:A History of the Therapy of Tuberculosis and the Case of Frederic Chopin. Esmond R. Long (1956) (0)
- Readings in medical care: Edited by the Committee on Medical Care Teaching of the Association of Teachers of Preventive Medicine. Chapel Hill, 1958, University of North Carolina Press. Pp. 708, indexed. Price $6.50 (1959) (0)
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