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Human Mutation|December 8, 2006
Identification and computationally-based structural interpretation of naturally occurring variants of human protein CErmanna Rovida, Giuliana Merati, Pasqualina D'Ursi, et al.Human Mutation|July 13, 2006
Paternal bias in parental origin of HRAS mutations in Costello syndromeKatia Sol-Church, Deborah L Stabley, Linda Nicholson, et al.Human Mutation|July 13, 2006
Identification of forty-five novel and twenty-three known NF1 mutations in Chinese patients with neurofibromatosis type 1Ming-Jen Lee, Yi-Ning Su, Huey-Ling You, et al.Human Mutation|July 13, 2006
Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermiaLucia Galli, Alfredo Orrico, Stefania Lorenzini, et al.Human Mutation|July 13, 2006
Missense mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTA) in a patient with mucolipidosis II induces changes in the size and cellular distribution of GNPTGStephan Tiede, Michael Cantz, Jürgen Spranger, et al.Human Mutation|January 16, 2007
MID1 mutation screening in a large cohort of Opitz G/BBB syndrome patients: twenty-nine novel mutations identifiedRosa Ferrentino, Maria Teresa Bassi, David Chitayat, et al.Human Mutation|January 16, 2007
Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortiumArjan P M de Brouwer, Helger G Yntema, Tjitske Kleefstra, et al.Human Mutation|January 16, 2007
GM1 gangliosidosis: molecular analysis of nine patients and development of an RT-PCR assay for GLB1 gene expression profilingAnna Caciotti, Maria Alice Donati, Elena Procopio, et al.Human Mutation|June 28, 2007
Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndromeJan D Marshall, Elizabeth G Hinman, Gayle B Collin, et al.Human Mutation|July 25, 2007
Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemiaRadek Cmejla, Jana Cmejlova, Helena Handrkova, et al.Pageof 577