Showing results (651-660 of 5,769) with videos related to
Sort By:
Pageof 577
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.Human Mutation|January 1, 1992
Analysis of exon 7 of the human phenylalanine hydroxylase gene: a mutation hot spot?B Dworniczak, L Kalaydjieva, S Pankoke, et al.Human Mutation|November 25, 2003
Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiencyShinjiro Akaboshi, Boris M Hogema, Andrea Novelletto, et al.Human Mutation|November 25, 2003
Novel cytochrome P450 1B1 (CYP1B1) mutations in patients with primary congenital glaucoma in FranceEvelyne Colomb, Josseline Kaplan, Henri-Jean GarchonHuman Mutation|November 25, 2003
A pathogenic glutamate-to-aspartate substitution (D296E) in the pyruvate dehydrogenase E1 subunit gene PDHA1R M Brown, R A Head, I I Boubriak, et al.Pageof 577