Published in Obstet Gynecol on July 01, 1972
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A case of trisomy 9. J Med Genet (1973) 1.99
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IgA deficiency associated with partial deletion of chromosome 18. Am J Dis Child (1969) 1.20
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The Hunter syndrome in females: is there an autosomal recessive form of iduronate sulfatase deficiency? Am J Hum Genet (1977) 1.17
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A ring-20 chromosome. J Med Genet (1972) 1.17
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Mutations in PAX3 that cause Waardenburg syndrome type I: ten new mutations and review of the literature. Am J Med Genet (1995) 1.16
Regulation of 5-methyltetrahydrofolate: homocysteine methyltransferase activity by methionine, vitamin B12, and folate in cultured baby hamster kidney cells. Proc Natl Acad Sci U S A (1973) 1.15
The pregnancy at risk for a genetic disorder. N Engl J Med (1970) 1.15
An unstable ring chromosome in a female infant with hypotonia, seizures, and retarded development. J Med Genet (1966) 1.14
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Familial premature ovarian failure due to an interstitial deletion of the long arm of the X chromosome. N Engl J Med (1987) 1.10
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Trisomy 18. Radiology (1969) 1.09
The value of alpha-fetoprotein in the prenatal diagnosis of neural tube defects. J Pediatr (1974) 1.08
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On the difficulty of combining basic research and patient care. Am J Hum Genet (1984) 1.06
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Molecular cytogenetic characterisation of the first familial case of partial 9p duplication (p22p24). J Med Genet (1996) 1.02
A microassay for argininosuccinase in cultured cells. Am J Hum Genet (1972) 1.02
Familial paragangliomas: linkage to chromosome 11q23 and clinical implications. Am J Med Genet (1997) 1.02
Genetic screening. N Engl J Med (1972) 1.01
First-trimester drug use and congenital disorders. Obstet Gynecol (1985) 1.00
Urinary tract epithelial cells cultured from human urine. Int Rev Cytol Suppl (1979) 1.00
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Prenatal diagnosis of open neural tube defects using the amniotic fluid acetylcholinesterase assay. Obstet Gynecol (1982) 0.96
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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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Absent patellae, mild mental retardation, skeletal and genitourinary anomalies, and C group autosomal mosaicism. J Pediatr (1970) 0.94
Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma. Am J Med Genet (2001) 0.94