Published in J Med Genet on December 01, 1995
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A polymerase chain reaction-enzyme-linked immunosorbent assay method for detecting human papillomavirus in cervical carcinomas and high-grade cervical cancer precursors. Obstet Gynecol (1995) 1.50
Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit. Am J Hum Genet (1998) 1.49
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Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations. Hum Mol Genet (1997) 1.18
Analysis of four diverse population groups indicates that a subset of cystic fibrosis mutations occur in common among Caucasians. Am J Hum Genet (1992) 1.17
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Isolated foveal hypoplasia. Br J Ophthalmol (1987) 1.15
Retinitis pigmentosa associated with Fuchs' heterochromic uveitis. Arch Ophthalmol (2000) 1.14
Aberrant melanoblast migration associated with trisomy 18 mosaicism. J Med Genet (1983) 1.12
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Multiple mutations are responsible for the high frequency of metachromatic leukodystrophy in a small geographic area. Am J Hum Genet (1995) 1.10
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Confirmation and further regional assignment of aminoacylase 1 (acy-1) on human chromosome 3 using a simplified detection method. Ann Hum Genet (1980) 1.10
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Two different mutations are responsible for Krabbe disease in the Druze and Moslem Arab populations in Israel. Hum Genet (1996) 1.07
Localization of the Krabbe disease gene (GALC) on chromosome 14 by multipoint linkage analysis. Am J Hum Genet (1993) 1.07
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A familial syndrome of central nervous system and ocular malformations. Clin Genet (1975) 1.06
Two overlapping transcription units which extend across the L-S junction of herpes simplex virus type 1. J Virol (1995) 1.05
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