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Human Mutation|January 1, 1995
Mucopolysaccharidosis type II (Hunter disease): identification and characterization of eight point mutations in the iduronate-2-sulfatase gene in Japanese patientsK Sukegawa, S Tomatsu, T Fukao, et al.Human Mutation|January 1, 1995
Detection of 12 novel mutations in the collagenous domain of the COL4A5 gene in Alport syndrome patientsE Boye, F Flinter, J Zhou, et al.Human Mutation|January 1, 1995
Point mutation screening for 16 exons of the dystrophin gene by multiplex single-strand conformation polymorphism analysisA L Kneppers, P P Deutz-Terlouw, J T den Dunnen, et al.Human Mutation|January 1, 1995
A single-tube multiplex system for the simultaneous detection of 10 common cystic fibrosis mutationsR A Axton, D J BrockHuman Mutation|January 1, 1993
A rapid and reliable PCR method for genotyping the ABO blood groupD S O'Keefe, A DobrovicHuman Mutation|January 1, 1993
A molecular approach to estimating the human deleterious mutation rateA S Kondrashov, J F CrowHuman Mutation|January 1, 1995
Mutations in the Norrie disease geneD E Schuback, Z Y Chen, I W Craig, et al.Human Mutation|January 1, 1995
Mutations and polymorphisms in the human ornithine transcarbamylase gene: mutation update addendumM Tuchman, R J PlanteHuman Mutation|January 1, 1995
Characterization of germline mutations of the gene encoding Bruton's tyrosine kinase in families with X-linked agammaglobulinemiaT L Hagemann, F S Rosen, S P KwanHuman Mutation|January 1, 1995
African, Native American, and European mitochondrial DNAs in Cubans from Pinar del Rio Province and implications for the recent epidemic neuropathy in Cuba. Cuba Neuropathy Field Investigation TeamA Torroni, M D Brown, M T Lott, et al.Pageof 574