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American Journal of Human Genetics|May 1, 1992
A Cys138-to-Arg substitution in the GM2 activator protein is associated with the AB variant form of GM2 gangliosidosisB Xie, W Wang, D J MahuranAmerican Journal of Human Genetics|May 1, 1992
Somatic reversion/suppression in Duchenne muscular dystrophy (DMD): evidence supporting a frame-restoring mechanism in rare dystrophin-positive fibersC J Klein, D D Coovert, D E Bulman, et al.American Journal of Human Genetics|May 1, 1992
Fragile-X syndrome: unique genetics of the heritable unstable elementS Yu, J Mulley, D Loesch, et al.American Journal of Human Genetics|February 18, 2005
Fine mapping of chromosome 17 translocation breakpoints > or = 900 Kb upstream of SOX9 in acampomelic campomelic dysplasia and a mild, familial skeletal dysplasiaKatherine L Hill-Harfe, Lee Kaplan, Heather J Stalker, et al.American Journal of Human Genetics|February 16, 2005
Genetic association analysis using data from triads and unrelated subjectsMichael P Epstein, Colin D Veal, Richard C Trembath, et al.American Journal of Human Genetics|June 16, 2004
High-resolution molecular characterization of 15q11-q13 rearrangements by array comparative genomic hybridization (array CGH) with detection of gene dosageNicholas J Wang, Dahai Liu, Alexander S Parokonny, et al.American Journal of Human Genetics|June 17, 2004
Mutations in microcephalin cause aberrant regulation of chromosome condensationMarc Trimborn, Sandra M Bell, Clive Felix, et al.American Journal of Human Genetics|June 18, 2004
A predominantly neolithic origin for Y-chromosomal DNA variation in North AfricaBarbara Arredi, Estella S Poloni, Silvia Paracchini, et al.American Journal of Human Genetics|March 5, 2004
A simple correction for multiple testing for single-nucleotide polymorphisms in linkage disequilibrium with each otherDale R NyholtAmerican Journal of Human Genetics|March 5, 2004
Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndromeGeneviève Baujat, Marlène Rio, Sylvie Rossignol, et al.Pageof 979