Aubrey Milunsky

Q: What Schools Are Affiliated With Aubrey Milunsky

Aubrey Milunsky is affiliated with the following schools: Boston University, University of Cape Town, University of the Witwatersrand, Harvard University

Aubrey Milunsky's AcademicInfluence.com Rankings

Aubrey Milunsky

Biology

#10083

World Rank

#13373

Historical Rank

Genetics

#1051

World Rank

#1149

Historical Rank

biology Degrees

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Biology

Aubrey Milunsky's Degrees

Masters Medicine University of Cape Town
PhD Human Genetics University of Cape Town

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Aubrey Milunsky'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

Multivitamin/folic acid supplementation in early pregnancy reduces the prevalence of neural tube defects. (1989) (675)
Congenital bilateral absence of the vas deferens. A primarily genital form of cystic fibrosis. (1992) (530)
An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome (1992) (445)
Methotrexate-induced congenital malformations. (1968) (289)
Maternal heat exposure and neural tube defects. (1992) (271)
Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I). (1993) (250)
Teratogenicity of high vitamin A intake. (1996) (242)
First-Trimester Drug Use and Congenital Disorders (1981) (232)
A Prospective Study of the Risk of Congenital Defects Associated with Maternal Obesity and Diabetes Mellitus (2000) (208)
Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination. (2013) (189)
Genetic Disorders and the Fetus (1979) (173)
Prenatal genetic diagnosis. I. (1970) (143)
Predictive values, relative risks, and overall benefits of high and low maternal serum α-fetoprotein screening in singleton pregnancies: New epidemiologic data (1989) (126)
Mutations in PAX3 that cause Waardenburg syndrome type I: ten new mutations and review of the literature. (1995) (120)
First-trimester drug use and congenital disorders. (1981) (114)
Genetic Disorders and the Fetus: "Diagnosis, Prevention, And Treatment" (2012) (113)
Immunology: Congenital unilateral absence of the vas deferens: a heterogeneous disorder with two distinct subpopulations based upon aetiology and mutational status of the cystic fibrosis gene (1995) (106)
Prenatal diagnosis of neural tube defects. VIII. The importance of serum alpha-fetoprotein screening in diabetic pregnant women. (1982) (96)
High concentration of hexacosanoate in cultured skin fibroblast lipids from adrenoleukodystrophy patients. (1978) (90)
Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma. (2001) (78)
Spinocerebellar ataxia type 8: molecular genetic comparisons and haplotype analysis of 37 families with ataxia. (2004) (77)
Mapping the X-linked lymphoproliferative syndrome. (1987) (71)
Mutations in PAX3 associated with waardenburg syndrome type I (1994) (70)
Apparent biochemical homozygosity in two obligatory heterozygotes for metachromatic leukodystrophy. (1976) (69)
The Prenatal Diagnosis of Hereditary Disorders (1974) (68)
Prenatal Diagnosis of Neural Tube Defects: IV. MATERNAL SERUM ALPHA-FETOPROTEIN SCREENING (1980) (67)
Diabetes mellitus in Down's Syndrome. (1968) (67)
Advances in Perinatal Medicine (1986) (64)
Molecular cytogenetic characterisation of the first familial case of partial 9p duplication (p22p24). (1996) (62)
The value of alpha-fetoprotein in the prenatal diagnosis of neural tube defects. (1974) (61)
Localization of the genes for histatins to human chromosome 4q13 and tissue distribution of the mRNAs. (1989) (60)
Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations (1998) (60)
Nicotine and cotinine in the amniotic fluid of smokers in the second trimester of pregnancy. (1974) (57)
Folate Intake and the Risk of Neural Tube Defects: An Estimation of Dose-Response (2003) (53)
Results and benefits of a maternal serum alpha-fetoprotein screening program. (1984) (53)
Lysosomal enzyme variations in cultured normal skin fibroblasts. (1972) (53)
Predictive values, relative risks, and overall benefits of high and low maternal serum alpha‐fetoprotein screening in singleton pregnancies: New epidemiologic data (1990) (52)
Analysis by mass spectrometry of 100 cystic fibrosis gene mutations in 92 patients with congenital bilateral absence of the vas deferens. (2002) (52)
Pulmonary function and clinical observations in men with congenital bilateral absence of the vas deferens. (1996) (50)
Prenatal detection of intestinal obstruction: deficient amniotic fluid disaccharidases in affected fetuses (1980) (49)
Schizophrenia susceptibility gene locus at Xp22.3 (1999) (48)
A tobacco‐specific carcinogen in the fetus (2000) (48)
Duty to re-contact (1999) (47)
The prevention of genetic disease and mental retardation (1975) (46)
Maternal zinc and fetal neural tube defects. (1992) (46)
Congenital unilateral absence of the vas deferens: a heterogeneous disorder with two distinct subpopulations based upon aetiology and mutational status of the cystic fibrosis gene. (1995) (46)
Early-onset diabetes mellitus in the general and Down's syndrome populations. Genetics, aetiology, and pathogenesis. (1969) (46)
Prenatal detection of neural tube defects. VI. Experience with 20,000 pregnancies. (1980) (45)
Familial paragangliomas: linkage to chromosome 11q23 and clinical implications. (1997) (45)
Abnormal maternal serum levels of human chorionic gonadotropin free subunits in trisomy 18. (1990) (44)
The Hunter syndrome in females: is there an autosomal recessive form of iduronate sulfatase deficiency? (1977) (44)
Prenatal genetic diagnosis (second of three parts). (1970) (41)
Diagnosis of lipogranulomatosis (Farber disease) by use of cultured fibroblasts. (1976) (41)
Cytogenetic studies of eight squamous cell carcinomas of the head and neck. Deletion of 7q, a possible primary chromosomal event. (1992) (41)
Genetics and the Law II (1980) (40)
Chromosome deletion of Xq25 in an individual with X-linked lymphoproliferative disease. (1989) (39)
A new mutation causing familial amyloidotic polyneuropathy. (1989) (37)
Prenatal diagnosis of neural tube defects. I. Problems and pitfalls: analysis of 2495 cases using the alpha-fetoprotein assay. (1976) (37)
Proline at position 36: a new transthyretin mutation associated with familial amyloidotic polyneuropathy. (1991) (37)
The prenatal diagnosis of inborn errors of metabolism. (1972) (36)
ELEVATED AMNIOTIC-FLUID ALPHA-FETOPROTEIN AND DUODENAL ATRESIA (1975) (35)
Maternal serum triple analyte screening and adverse pregnancy outcome. (1996) (35)
Current concepts in genetics. Prenatal diagnosis of genetic disorders. (1976) (35)
Current controversies in prenatal diagnosis 1: should NIPT routinely include microdeletions/microduplications? (2016) (35)
Cerebral gigantism in childhood. A report of two cases and a review of the literature. (1967) (35)
Chromosome 13q deletion with Waardenburg syndrome: further evidence for a gene involved in neural crest function on 13q. (1995) (34)
Polyploidy in prenatal genetic diagnosis. (1971) (34)
A large deletion in the CFTR gene in CBAVD (2006) (33)
Prenatal diagnosis of genetic disorders. An analysis of experience with 600 cases. (1974) (33)
Prenatal Diagnosis of Open Neural Tube Defects Using the Amniotic Fluid Acetylcholinesterase Assay (1982) (33)
Emerging phenotype of duplication (7p): a report of three cases and review of the literature. (1989) (32)
Prenatal diagnosis of neural tube defects. II. Analysis of false positive and false negative alpha-fetoprotein results. (1976) (32)
Prenatal Diagnosis of Neural Tube Defects: III. A Reevaluation of the Alpha-Fetoprotein Assay (1977) (30)
Vitamin A and retinol-binding protein in amniotic fluid. (1983) (30)
Familial amyloidotic polyneuropathy: a new transthyretin position 30 mutation (alanine for valine) in a family of German descent (1992) (30)
Physiological studies of human chorionic gonadotropin and free subunits in the amniotic fluid compartment compared to those in maternal serum. (1988) (29)
Folate intake and the risk of neural tube defects: an estimation of dose-response. (2003) (29)
Diagnosis of Chronic Intestinal Pseudo-obstruction and Megacystis by Sequencing the ACTG2 Gene (2017) (29)
Prenatal detection of neural tube defects. Comparison between alpha-fetoprotein and beta-trace protein assays. (1975) (28)
Novel intragenic deletion in OPHN1 in a family causing XLMR with cerebellar hypoplasia and distinctive facial appearance (2011) (28)
Report of a variant t(1;15;17)(p36;q22;q21.1) in a patient with acute promyelocytic leukemia. (1991) (28)
Trisomy 15 mosaicism and uniparental disomy (UPD) in a liveborn infant. (1994) (28)
The shorter zinc finger protein ZNF230 gene message is transcribed in fertile male testes and may be related to human spermatogenesis. (2001) (28)
Plasma, erythrocyte and leucocyte zinc levels in Down's syndrome. (2008) (28)
Amniocentesis for Prenatal Genetic Studies (1972) (28)
A microassay for argininosuccinase in cultured cells. (1972) (27)
Chromosomal anomalies among the offspring of women with gestational diabetes. (2002) (27)
The value of MLPA in Waardenburg syndrome. (2007) (27)
Prenatal molecular diagnosis of tuberous sclerosis complex. (2009) (27)
Amniotic Fluid Cell Culture (1979) (26)
Lies, Damned Lies, and Medical Experts: The Abrogation of Responsibility by Specialty Organizations and a Call for Action (2003) (26)
First-trimester maternal serum α-fetoprotein screening for chromosome defects☆ (1988) (26)
CFTR 5T variant has a low penetrance in females that is partially attributable to its haplotype (2006) (26)
A locus for autosomal recessive achromatopsia on human chromosome 8q (1999) (25)
A new transthyretin mutation associated with amyloidotic vitreous opacities. Asparagine for isoleucine at position 84. (1992) (25)
Gene sequencing in neonates and infants with the long QT syndrome. (2005) (25)
Interstitial deletion involving most of Yq. (1990) (24)
Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. (1977) (24)
Decreased levels of amniotic fluid α-fetoprotein associated with Down syndrome (1985) (24)
Homozygosity for the met30 transthyretin gene in a Turkish kindred with familial amyloidotic polyneuropathy (1990) (23)
Agenesis or hypoplasia of major salivary and lacrimal glands. (1990) (23)
Insulin, glucose, growth hormone, and free fatty acids. Determinations in patients with cystic fibrosis. (1971) (23)
Glucose intolerance in the parents of children with Down's syndrome. (1970) (23)
Correlation of Abnormal Rapid FISH and Chromosome Results from Amniocytes for Prenatal Diagnosis (2006) (22)
Otopathology in a Case of Type I Waardenburg's Syndrome (2001) (22)
Utilization of Trophoblast for Early Prenatal Diagnosis (1979) (22)
Molecular cytogenetic characterization of multiple intrachromosomal rearrangements of chromosome 2q in a patient with Waardenburg's syndrome and other congenital defects (2004) (22)
The Prenatal Diagnosis of Neural Tube and Other Congenital Defects (1986) (22)
Disaccharidase and lysosomal enzyme activities in amniotic fluid, intestinal mucosa and meconium. Correlation between morphology and disaccharidase activities in human fetal small intestine. (1977) (21)
A new transthyretin variant from a patient with familial amyloidotic polyneuropathy has asparagine substituted for histidine at position 90 (1991) (21)
Diagnostic limitations of metachromasia. (1969) (20)
Risk of Amniocentesis for Prenatal Diagnosis (1975) (20)
Partial duplication of Xp: a case report and review of previously reported cases. (1991) (20)
Trisomy 12 mosaicism in phenotypically normal fetuses following prenatal detection (1990) (20)
Mutation analysis in Rett syndrome. (2001) (19)
Prenatal genetic diagnosis. (1980) (19)
Prenatal diagnosis of chromosomal mosaicism (1976) (19)
First‐trimester maternal serum alpha‐fetoprotein and human chorionic gonadotropin screening for chromosome defects (1990) (19)
Prenatal genetic diagnosis. 3. (1970) (19)
Precise prenatal diagnosis of tuberous sclerosis by sequencing the TSC2 gene (2005) (18)
Detection of the carrier state of Hurler's syndrome by assay of α-l-iduronidase in leukocytes (1976) (18)
Characterization of an analphoid supernumerary marker chromosome derived from 15q25→qter using high‐resolution CGH and multiplex FISH analyses (2005) (18)
Genetic Counseling: Preconception, Prenatal, and Perinatal (2010) (18)
Characterization of a duplication in the terminal band of 4p by molecular cytogenetics. (1993) (18)
Localisation of the Y chromosome stature gene to a 700 kb interval in close proximity to the centromere (2002) (17)
A novel mutation in the MITF gene causes Waardenburg syndrome type 2. (1996) (17)
Two transthyretin mutations (glu42gly, his90asn) in an Italian family with amyloidosis (1994) (17)
Molecular characterization of the TCP11 gene which is the human homologue of the mouse gene encoding the receptor of fertilization promoting peptide. (2002) (17)
Evidence for genetic heterogeneity of the Carney complex (familial atrial myxoma syndromes). (1998) (16)
Carbohydrate Tolerance, Growth Hormone and Insulin Levels in Mongolism (1968) (16)
Derivation and characterization of a monoclonal hybridoma antibody specific for human alpha-fetoprotein. (1980) (16)
Fetal bladder-neck obstruction and elevated amniotic-fluid alpha fetoprotein. (1977) (15)
Identification of a dominant MYH11 causal variant in chronic intestinal pseudo‐obstruction: Results of whole‐exome sequencing (2019) (15)
Linkage analysis of seven kindreds with the X-linked lymphoproliferative syndrome (XLP) confirms that the XLP locus is near DXS42 and DXS37 (1989) (15)
Prenatal diagnosis of Friedreich ataxia. (1989) (15)
In situ hybridization applied to Waardenburg syndrome. (1993) (15)
Whole gene duplication of the PQBP1 gene in syndrome resembling Renpenning (2011) (15)
Prenatal diagnosis of the congenital nephrotic syndrome. (1977) (15)
Isolation, characterization, and mapping of a novel human KRAB zinc finger protein encoding gene ZNF463. (2001) (15)
Delayed Puberty Due to a Novel Mutation in CHD7 Causing CHARGE Syndrome (2010) (15)
Your Genetic Destiny: Know Your Genes, Secure Your Health, Save Your Life (2001) (14)
Genetics and the Law (1995) (14)
Rett syndrome from quintuple and triple deletions within the MECP2 deletion hotspot region (2001) (14)
Amniotic Fluid Alpha-Fetoprotein in Anencephaly (1974) (14)
Chromosomal translocations in secondary acute myeloid leukemia. (1996) (14)
Abnormal Copper Metabolism in Menke's Steely-Hair Syndrome (1979) (13)
Mapping the mutation causing the X-linked lymphoproliferative syndrome in relation to restriction fragment length polymorphisms on Xq (1989) (13)
Genetic metabolic disease. Early diagnosis and prenatal analysis. (1981) (13)
Cholesterol Metabolism in Cultured Fibroblasts in Adrenoleukodystrophy (1976) (13)
Cystic fibrosis and Down's syndrome. (1968) (13)
Commercialization of clinical genetic laboratory services: in whose best interest? (1993) (13)
Maternal Serum Screening for Neural Tube and Other Defects (2010) (12)
Abnormalities of chromosome 22 in meningiomas and confirmation of the origin of a dicentric 22 by in situ hybridization. (1992) (12)
Maternal serum screening for chromosome defects: human chorionic gonadotropin versus its free-beta subunit. (1993) (12)
Periconceptional use of multivitamins and the prevalence of neural-tube defects. (1990) (12)
Localization of the gene for human heart fatty acid binding protein to chromosome 1p32-1p33 (1993) (12)
Maternal serum AFP secreening. (1978) (12)
Prenatal diagnosis: detailed chromosomal analysis in 500 cases (1974) (12)
High-resolution mapping of probes near the X-linked lymphoproliferative disease (XLP) locus. (1993) (12)
Truncating variants in UBAP1 associated with childhood‐onset nonsyndromic hereditary spastic paraplegia (2019) (12)
Tetraploidy in amniotic-fluid cells. (1970) (11)
ROUTINE TESTING FOR ALPHA-FETOPROTEIN IN AMNIOTIC FLUID (1976) (11)
Ovulation induction and neural tube defects. (1990) (11)
The prenatal diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) by mutation analysis (2005) (11)
Maternal serum human chorionic gonadotropin levels in twin pregnancies (1991) (10)
Sex-determining genes and the Y-chromosome. (1973) (10)
The Prenatal Diagnosis of Chromosomal Disorders (1979) (10)
Secretion by a hybridoma of antibodies against human alpha-fetoprotein. (1980) (10)
Renal tubular dysgenesis with microcephaly (1997) (10)
Fraternal twins with Aarskog–Scott syndrome due to maternal germline mosaicism (2011) (9)
Cytogenetic and molecular cytogenetic studies of a case of interstitial deletion of proximal 15q (1995) (9)
Failure of amniotic-fluid cell growth with toxic tubes. (1979) (9)
AMNIOTIC-FLUID TOTAL CHOLINESTERASE AND NEURAL-TUBE DEFECTS (1979) (9)
Prenatal diagnosis of neural tube defects. (1977) (9)
HAZARDS OF AMNIOCENTESIS (1979) (8)
The Hunter syndrome in a 46 XX girl. (1973) (8)
46,XY/47,XYY male with the fragile X syndrome: cytogenetic and molecular studies. (1993) (8)
The "new" genetics: emerging medicolegal issues in the prenatal issues in the prenatal diagnosis of hereditary disorders. (1975) (8)
Prenatal diagnosis of genetic disorders. (1981) (8)
Insulin and glucose response to glucagon in Down's syndrome. (1967) (8)
Duplication 18q syndrome (1983) (7)
Prenatal detection of neural tube defects: false positive and negative results. (1977) (7)
Prenatal diagnosis of chronic intestinal pseudo‐obstruction and paternal somatic mosaicism for the ACTG2 pathogenic variant (2017) (7)
Pallister–Killian syndrome: tetrasomy of 12pter→12p11.22 in a boy with an analphoid, inverted duplicated marker chromosome (2007) (7)
Use of microtechniques for the detection of lysosomal enzyme disorders: Tay‐Sachs disease, Gm1‐gangliosidosis and Fabry disease (1978) (7)
Alpha‐fetoprotein and acetylcholinesterase are not predictive of fetal junctional epidermolysis bullosa, Herlitz variant (1991) (7)
Sclerema neonatorum: a clinical study of 79 cases. (1966) (7)
A 22-bp deletion in the coding region of the cystic fibrosis gene. (1992) (7)
Cytogenetic studies of an adrenal cortical carcinoma. (1992) (7)
Vitamins During Pregnancy and Neural Tube Defects-Reply (1990) (6)
Threatened survival of academic-based genetic laboratory services. (1992) (6)
Alpha-fetoprotein and the prenatal detection of neural tube defects. (1979) (6)
The “New Genetics” in Clinical Practice: A Brief Primer (2017) (6)
Genetic counseling in perinatal medicine. (1997) (6)
Prenatal Diagnosis of Hereditary Biochemical Disorders of Metabolism (1979) (6)
Chromosome 13 q deletion with Waardenburg syndrome : further evidence for a gene involved in neural crest function on 13 q (6)
Genetics, law and obstetric practice (1983) (6)
Elevated alpha-fetoprotein and acetylcholinesterase associated with hydrocele. (1984) (6)
Advances in Perinatal Medicine (1983) (6)
Coping with crisis and handicap (1981) (6)
Amniotic fluid fibrinogen degradation products in the prenatal diagnosis of neural tube defects. (1977) (6)
A de novo Complex Chromosome Rearrangement Involving Chromosomes 2, 3, 5, 9 and 11 Detected Prenatally and Studied Postnatally by Conventional Cytogenetics and Molecular Cytogenetic Analyses (2007) (6)
Prenatal diagnosis of myotonic muscular dystrophy with linked deoxyribonucleic acid probes. (1991) (6)
A fourteen years follow-up of a case of partial trisomy 12q and monosomy 12p recombinants of a familial pericentric inversion of chromosome 12: clinical, cytogenetic and molecular observations. (2007) (6)
PRENATAL DIAGNOSIS OF TAY-SACHS DISEASE (1973) (6)
Cerebral gigantism in childhood. (1967) (6)
The Cri du Chat syndrome. (2008) (6)
Vitamins to prevent neural tube defects (1991) (6)
The biochemical defect in Farber's disease. (1976) (6)
Urea and electrolyte levels in the serum in sclerema neonatorum. (1965) (5)
Harvesting organs for transplantation from dying anencephalic infants. (1988) (5)
Congenital defects, folic-acid, and homoeobox genes (1996) (5)
High Performance Liquid Chromatography for the Detection of Homozygotes and Heterozygotes of Niemann-Pick Disease (1978) (5)
Gm2-gangliosidosis: studies in cultured fibroblasts. (1973) (5)
Prenatal Genetic Diagnosis and the Law (1980) (5)
Presymptomatic and prenatal diagnosis of myotonic muscular dystrophy with linked DNA probes. (1991) (5)
Decreased levels of amniotic fluid alpha-fetoprotein associated with Down syndrome. (1985) (5)
Case report: cystic fibrosis and embryonal carcinoma of the testis. (1996) (5)
Lethal congenital anomalies. (1983) (5)
Heredity and your family's health (1992) (5)
Antenatal Diagnosis, Alpha Fetoprotein and the FDA (1976) (5)
The “New” Genetics: Emerging Medicolegal Issues in the Prenatal Diagnosis of Hereditary Disorders (1975) (4)
Clinical, cytogenetic, and molecular characterization of a girl with some clinical features of Down syndrome resulting from a pure partial trisomy 21q22.11-qter due to a de novo intrachromosomal duplication. (2010) (4)
A contiguous microdeletion syndrome at Xp23.13 with non-obstructive azoospermia and congenital cataracts (2020) (4)
Editorial: Risk of amniocentesis for prenatal diagnosis. (1975) (4)
Familial supernumerary chromosome and malignancy. (1996) (4)
A 21 years follow-up of a girl patient with a pseudodicentric bisatellited chromosome 22 associated with partial trisomy 22pter-->22q12.1: clinical, cytogenetic and molecular observations. (2008) (4)
First prenatal diagnosis of X-linked lymphoproliferative disease. (1992) (4)
First-trimester maternal serum alpha-fetoprotein screening for chromosome defects. (1988) (4)
FIRST TRIMESTER MATERNAL SERUM ALPHA-FETOPROTEIN (MSAFP) SCREENING FOR CHROMOSOME DEFECTS (1987) (4)
Deregulation of screening for alpha-fetoprotein in pregnancy. (1984) (4)
Ethical and Selected Medical Aspects of Preimplantation Genetic Diagnosis (1991) (4)
Medico-Legal Issues in Prenatal Genetic Diagnosis (1976) (4)
Medicolegal Aspects of Prenatal Diagnosis (1979) (3)
Down's syndrome and cystic fibrosis. (1969) (3)
The value of deletion analysis for carrier detection in Duchenne muscular dystrophy (DMD) (1991) (3)
ALPHA-FETOPROTEIN ASSAY IN ALL AMNIOCENTESIS SAMPLES (1976) (3)
Sickle Cell Disease. (2017) (3)
Normal serum alpha-fetoprotein levels during mid-pregnancy. (1981) (3)
Prenatal Diagnosis for Schmid Metaphyseal Chondrodysplasia in Twins (1998) (3)
Microenzymatic assays for lysosomal enzymes in primary amniotic fluid cell cultures. (1980) (3)
The effect of p-chloromercuriophenylsulfonate on skin fibroblast acid hydrolases (1972) (3)
1305 FIRST TRIMESTER MATERNAL SERUM ALPHA-FETOPROTEIN (MSAFp) SCREENING (1985) (3)
ASN 90 is the Variant TTR in an Italian FAP Kinship (1991) (3)
Amniotic Fluid Constituents, Cell Culture, and Neural Tube Defects (2015) (3)
Patella Alta and Trochlea Dysplasia Is Associated with Abnormal Type II Collagen and Matrix Accumulation in Chondrocytes (2014) (2)
Editorial: Hereditary eye disease and prenatal diagnosis. (1974) (2)
Genetics and the Law III (1985) (2)
Cautions about maternal serum alpha-fetoprotein screening. (1985) (2)
Genetic Counseling: Prelude to Prenatal Diagnosis (1979) (2)
Annular pancreas in Down's syndrome. (1968) (2)
Choices, Not Chances: An Essential Guide to Your Heredity and Health (1989) (2)
VIII. The importance of serum alpha-fetoprotein screening in diabetic pregnant women (1982) (2)
A 14-year follow-up of a case detected prenatally of partial trisomy 13q21.32-qter and monosomy 18q22.3-qter as a result of a maternal complex chromosome rearrangement involving chromosomes 6, 13, and 18. (2009) (2)
Reply to Hecht and Hecht, Trigg and Geier, and Warren. (1992) (2)
Sex Chromosome and X-Linked Disorders (1979) (2)
Fetal malformations and environmental influences: A perspective (1982) (2)
FREE AMINO ACID CONCENTRATIONS IN FETAL SERUM (1974) (2)
An important clinical approach in detecting the fragile X syndrome. (1985) (2)
Brief clinical report: duplication 18q syndrome. (1983) (2)
Obstetrics, genetics, and litigation (2021) (2)
'Prolife' perinatologist [1] (1992) (1)
Prenatal diagnosis of neural tube defects. V. The value of amniotic fluid cholinesterase studies. (1980) (1)
Prenatal screening, policies, and values: The example of neural tube defects (1988) (1)
Birth defects: clinical and ethical considerations. Annual review of birth defects, 1982. (1984) (1)
The "new" genetics: from research to reality. (1993) (1)
ETERNAL SERUM ALPHA-FETOPROTEIN (AFP) SCREENING FOR NEURAL TUBE DEFECTS (NTDS) (1977) (1)
Abortion legislation. Implications for medicine. (1982) (1)
Genetic Counseling in Prenatal and Perinatal Medicine (2008) (1)
Response to Dr Golden (2004) (1)
Genetic counseling, the ophthalmologist and the law. (1977) (1)
Section 3: Prenatal screening and diagnosis of open neural tube defects (1981) (1)
Genetic Disorders and the Fetus (1986) (1)
THE VALUE OF ALPHA-FETOPROTEIN IN THE PRENATAL DIAGNOSIS OF NEURAL TUBE DEFECTS (1975) (1)
Reply to Drs. Platt and Golde (1983) (1)
Re: Choices, not chances (1990) (1)
Prenatal Diagnosis of Miscellaneous Biochemical Disorders (1986) (1)
Detection of the carrier state of Hurler's syndrome by assay of alpha-L-iduronidase in leukocytes. (1976) (1)
Policy analysis for prenatal genetic diagnosis. (1979) (1)
Reviewer Acknowledgment (2013) (0)
Alpha-fetoprotein and the prenatal detection of neural tube defects. (Editorial) (1979) (0)
Appendix: Prenatal Diagnosis of Additional Miscellaneous Genetic Disorders (2010) (0)
Reply to Drs. Eunpu, Zackai, and Mennuti (1983) (0)
EXPERIENCE WITH α-FETOPROTEIN (AFP) IN PRENATAL DIAGNOSIS OF NEURAL TUBE DEFECTS (NTD) (1974) (0)
Prenatal Detection of Neural Tube Defects (2019) (0)
Book ReviewAntenatal Diagnosis of Genetic Disease. (1974) (0)
WAARDENBURG SYNDROME IS CAUSED BY DEFECTS AT MULTIPLE LOCI, ONE OF WHICH IS TIGHTLY LINKED TO ALPP ON CHROMOSOME-2 - 1ST REPORT OF THE WS CONSORTIUM (1991) (0)
875 ZINC THERAPY IN MANNOSIDOSIS (1978) (0)
In Reply: The Anencephalic Controversy (1989) (0)
1210 ACETYLCHOLINESTERASE (AChE) ASSAY FOR PRENATAL DIAGNOSIS OF NEURAL TUBE DEFECTS (NTDs) (1981) (0)
Chromosomal Anomalies Chromosomal Anomalies among the Offspring of Women with Gestational Diabetes (2002) (0)
Test for elevated AFP levels. (1978) (0)
Molecular Genetics and Prenatal Diagnosis (2015) (0)
PRENATAL GENETIC DIAGNOSIS (PART III) (1971) (0)
Chromosome13qdeletion withWaardenburg syndrome: further evidence forageneinvolved inneural crest function on13q (1995) (0)
Manslaughter and Negligent Homicide by a Navy Surgeon: A Banquet of Consequences (1985) (0)
FETAL SERUM LYSOSOMAL ENZYMES (1974) (0)
DISACCHAPIDASE AID LYSOSOMAL ENZYME ACTIVITIES IN AUNITIC FLUID AND HUMAN FETAL. SMALL INTESTIN (1977) (0)
Editorial help (2004) (0)
Disorders of the Metabolism of Amino Acids and Related Compounds (1986) (0)
MONOCLONAL ANTIBODY AGAINST OUABAIN SENSITIVITY RELATED HUMAN CELL SURFACE ANTIGEN (1982) (0)
Alpha-fetoprotein assay in all amniocentesis samples. (Letter) (1976) (0)
President's Column (1986) (0)
Sounding board: Antenatal diagnosis, alpha fetoprotein and the FDA. (1976) (0)
Pulmonary Function andClinical Observations inMenWithCongenital Bilateral Absence oftheVasDeferens (2015) (0)
2002 ANNUAL CLINICAL GENETICS MEETING (2001) (0)
Selected Book Releases (1989) (0)
Modern way to predict your baby's future (1978) (0)
Reply to nightingale and meister. (1988) (0)
557 PRENATAL DIAGNOSIS IN THE FIRST TRIMESTER VIA ENDOCER VICAL SAMPLING (1978) (0)
"Prolife" perinatologist. (1992) (0)
TOENAIL ZINC (Zn) IN MOTHERS OF PROGENY WITH NEURAL TUBE DEFECTS (NTDS) (1984) (0)
Correction to: A contiguous microdeletion syndrome at Xp22.13 with non-obstructive azoospermia and congenital cataracts (2021) (0)
Urea and electrolyte levek in (1963) (0)
L2, a DNA fragment from Xq24-q27, detects an EcoR1 RFLP (HGM9 no. DXS12). (1989) (0)
512 PRENATAL DIAGNOSIS OF LYSOSOMAL ENZYME DISORDERS USING MICROASSAYS (1978) (0)
Science and Society: Genetics and the law (1985) (0)
Maternal Exposure to Heat from Saunas, Hot Tubs and Fevers Increases the Risk for Neural Tube Defects in Fetuses (1992) (0)
Deletion of 15q12 in Angelman syndrome: report of 3 new cases (1992) (0)
Screening for Birth Defects: A Professional Liability Alert (1985) (0)
First Turkish Family with FAP has Homozygous Met 30 TTR (1991) (0)
Prenatal Diagnosis: Selected Problems and Quality Assurance (1982) (0)
Maternal serum AFP and birth weight (letter) (1978) (0)
Maternal serum α-fetoprotein screening and choriocarcinoma (1986) (0)
Letter to the Editor (1969) (0)
P252: Narcolepsy in Ehlers-Danlos syndrome (2023) (0)
Hypoxic spinal cord injury and/or abnormality in utero. (2007) (0)
Prenatal Genetic Diagnosis: Status and Problems (1973) (0)
Prenatal detection of neural tube defects: experience with alpha-fetoprotein assays of amniotic fluid. (1978) (0)
Ethics in Conflict (1985) (0)
Genetic testing and individual rights. (1993) (0)
Cell culture studies in progeria I. Establishment and partial characterization of a lymphoblastoid cell line (1979) (0)
Fetal Medical Therapy (2015) (0)
A.F.P. IN AMNIOTIC FLUID AND SERUM (1978) (0)
Molecular confirmation of CHARGE syndrome from umbilical cord blood stem cells from a death newborn and identification of a new mutation in the exon 29 of the CHD7 gene (2012) (0)
Evaluation of satellited Y chromosome (Yqs) detected during prenatal diagnosis (1997) (0)
Folic acid and neural tube defect avoidance (1992) (0)
Contents, Vol. 32, 1977 (1977) (0)
Care in Chronic Fatal Genetic Disease (1981) (0)
Author response for "Identification of a Dominant MYH11 Causal Variant in Chronic Intestinal Pseudo‐Obstruction: Results of Whole‐Exome Sequencing" (2019) (0)
Letter: Prenatal diagnois of chromosomal mosaicism. (1976) (0)
PRENATAL DIAGNOSIS OF GENETIC DISORDERS. AN ANALYSIS OF EXPERIENCE WITH 600 CASES (1975) (0)
Avoidable deaths and harm due to medical negligence (2019) (0)
Routine amniotic fluid alpha-fetoprotein assays. (1983) (0)
Abortion Legislation-Reply (1983) (0)
From PKU to the Clonal Man (1976) (0)
Author's reply (1984) (0)
Prenatal diagnosis of genetic abnormalities. (1974) (0)
Letter: Prenatal diagnosis of Tay-Sachs disease. (1973) (0)
Maternal serum alpha-fetoprotein screening and choriocarcinoma. (1986) (0)

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