Fertility and Sterility · 1998 · 18 citations · 14 references
MedicineGeneticsMolecular GeneticsCytogeneticsHuman GeneticsMedical GeneticsCystic FibrosisDonor ScreeningGenetic DisordersMolecular ScreeningMutation ScreeningScreeningCystic Fibrosis GeneticsCystic Fibrosis ScreeningFamily Pedigree AnalysisGenetic TestingLaboratory Screening AssaysMedical Screening Of DonorsMolecular Genetic TestingTay-sachs Disease
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The Bloom's syndrome gene product is homologous to RecQ helicases
Nathan A. Ellis, Joanna Groden, Tian-Zhang Ye et al. · Cell · 1995 · 1.4K citations · Full text
Tay-Sachs Disease— Carrier Screening, Prenatal Diagnosis, and the Molecular Era
Michael M. Kaback · JAMA · 1993 · 257 citations
Gaucher disease: gene frequencies in the Ashkenazi Jewish population.
Ernest Beutler, N J Nguyen, M W Henneberger et al. · PubMed · 1993 · 233 citations
Analysis of a CGG sequence at the FMR-1 locus in fragile X families and in the general population.
K. Snow, L. Doud, Randi J. Hagerman et al. · PubMed · 1993 · 227 citations
The spectrum of cystic fibrosis mutations
L.‐C. Tsui · Trends in Genetics · 1992 · 193 citations