Published in Am J Med Genet on August 01, 1990
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Prenatal diagnosis of Friedreich ataxia. Am J Med Genet (1989) 1.03
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A microassay for argininosuccinase in cultured cells. Am J Hum Genet (1972) 1.02
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Prenatal diagnosis of open neural tube defects using the amniotic fluid acetylcholinesterase assay. Obstet Gynecol (1982) 0.96
Mapping the X-linked lymphoproliferative syndrome. Proc Natl Acad Sci U S A (1987) 0.95
The Cri du Chat syndrome. J Ment Defic Res (1966) 0.95
Diagnosis of lipogranulomatosis (Farber disease) by use of cultured fibroblasts. J Pediatr (1976) 0.94
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Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma. Am J Med Genet (2001) 0.94
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The value of MLPA in Waardenburg syndrome. Genet Test (2007) 0.91
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Lysosomal enzyme variations in cultured normal skin fibroblasts. Life Sci II (1972) 0.90
Emerging phenotype of duplication (7p): a report of three cases and review of the literature. Am J Med Genet (1989) 0.89
Characterization of an analphoid supernumerary marker chromosome derived from 15q25-->qter using high-resolution CGH and multiplex FISH analyses. Clin Genet (2005) 0.88
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. Hum Reprod (1995) 0.88
Localization of the genes for histatins to human chromosome 4q13 and tissue distribution of the mRNAs. Am J Hum Genet (1989) 0.88
Letter: Elevated amniotic-fluid alpha-fetoprotein and duodenal atresia. Lancet (1975) 0.88
Secretion by a hybridoma of antibodies against human alpha-fetoprotein. N Engl J Med (1980) 0.88
Intracellular modifications of human apolipoprotein E. J Biol Chem (1986) 0.87
Genetics, law and obstetric practice. Br J Obstet Gynaecol (1983) 0.86
Schizophrenia susceptibility gene locus at Xp22.3. Clin Genet (1999) 0.86
The Hunter syndrome in a 46 XX girl. N Engl J Med (1973) 0.85
Tetraploidy in amniotic-fluid cells. Lancet (1970) 0.84
The shorter zinc finger protein ZNF230 gene message is transcribed in fertile male testes and may be related to human spermatogenesis. Biochem J (2001) 0.84
Abnormalities of chromosome 22 in meningiomas and confirmation of the origin of a dicentric 22 by in situ hybridization. Cancer Genet Cytogenet (1992) 0.84
Linkage analysis of seven kindreds with the X-linked lymphoproliferative syndrome (XLP) confirms that the XLP locus is near DXS42 and DXS37. Hum Genet (1989) 0.84
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In situ hybridization applied to Waardenburg syndrome. Cytogenet Cell Genet (1993) 0.83
Glucose intolerance in the parents of children with Down's syndrome. Am J Ment Defic (1970) 0.83
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Chromosome 13q deletion with Waardenburg syndrome: further evidence for a gene involved in neural crest function on 13q. J Med Genet (1995) 0.83
Cystic fibrosis and Down's syndrome. Pediatrics (1968) 0.82
Mapping the mutation causing the X-linked lymphoproliferative syndrome in relation to restriction fragment length polymorphisms on Xq. Hum Genet (1989) 0.82
Pulmonary function and clinical observations in men with congenital bilateral absence of the vas deferens. Chest (1996) 0.82
Isolation, characterization, and mapping of a novel human KRAB zinc finger protein encoding gene ZNF463. Biochim Biophys Acta (2001) 0.82
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Trisomy 15 mosaicism and uniparental disomy (UPD) in a liveborn infant. Am J Med Genet (1996) 0.81
Abnormal copper metabolism in Menke's steely-hair syndrome. Pediatr Res (1979) 0.81
Novel intragenic deletion in OPHN1 in a family causing XLMR with cerebellar hypoplasia and distinctive facial appearance. Clin Genet (2011) 0.81
High-resolution mapping of probes near the X-linked lymphoproliferative disease (XLP) locus. Genomics (1993) 0.81
First-trimester maternal serum alpha-fetoprotein and human chorionic gonadotropin screening for chromosome defects. Prenat Diagn (1990) 0.81
Cytogenetic and molecular cytogenetic studies of a case of interstitial deletion of proximal 15q. Clin Genet (1995) 0.81
A 22-bp deletion in the coding region of the cystic fibrosis gene. Genomics (1992) 0.81
Chromosome deletion of Xq25 in an individual with X-linked lymphoproliferative disease. Am J Med Genet (1989) 0.81
Pallister-Killian syndrome: tetrasomy of 12pter-->12p11.22 in a boy with an analphoid, inverted duplicated marker chromosome. Clin Genet (2007) 0.81
Prenatal detection of intestinal obstruction: deficient amniotic fluid disaccharidases in affected fetuses. Clin Genet (1980) 0.81
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Familial amyloidotic polyneuropathy: a new transthyretin position 30 mutation (alanine for valine) in a family of German descent. Clin Genet (1992) 0.80
Chromosomal localization of the heterochromatic region 16qh(.76) linked to alpha-haptoglobin in man. Nature (1971) 0.80