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Human Mutation|April 25, 2019
Heterozygosity mapping for human dominant trait variantsAtsuko Imai-Okazaki, Yi Li, Sukanya Horpaopan, et al.Human Mutation|November 25, 2003
CYP2D6 genotyping strategy based on gene copy number determination by TaqMan real-time PCRElke Schaeffeler, Matthias Schwab, Michel Eichelbaum, et al.Human Mutation|October 1, 2003
Molecular pathology of NEU1 gene in sialidosisVolkan Seyrantepe, Helena Poupetova, Roseline Froissart, et al.Human Mutation|October 1, 2003
Identification of nine novel arylsulfatase a (ARSA) gene mutations in patients with metachromatic leukodystrophy (MLD)Barry Eng, Lisa N Nakamura, Natasha O'Reilly, et al.Human Mutation|October 1, 2003
Novel MLH1 mutations and a novel MSH2 polymorphism identified by SSCP and DHPLC in Portuguese HNPCC familiesG Isidro, S Matos, V Gonçalves, et al.Human Mutation|September 5, 2003
Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1Walter D Park, John F O'Brien, Patrick A Lundquist, et al.Human Mutation|September 5, 2003
Spectrum of FANCA mutations in Italian Fanconi anemia patients: identification of six novel alleles and phenotypic characterization of the S858R variantMaria Savino, Adriana Borriello, Maria D'Apolito, et al.Human Mutation|August 26, 2003
Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination-associated motifsShaun S Abeysinghe, Nadia Chuzhanova, Michael Krawczak, et al.Human Mutation|August 26, 2003
CFTR mutations in patients from Colombia: implications for local and regional molecular diagnosis programsGenoveva Keyeux, Clemencia Rodas, Thierry Bienvenu, et al.Pageof 574