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Human Genetics|September 1, 2004
First case of aplastic anemia in a Japanese child with a homozygous missense mutation in the NBS1 gene (I171V) associated with genomic instabilityHiroyuki Shimada, Kimiko Shimizu, Sachiyo Mimaki, et al.Human Genetics|September 1, 2004
Functional analysis of two-amino acid substitutions in gp91 phox in a patient with X-linked flavocytochrome b558-positive chronic granulomatous disease by means of transgenic PLB-985 cellsClara Bionda, Xing Jun Li, Robin van Bruggen, et al.Human Genetics|September 1, 2004
Functional disomy resulting from duplications of distal Xq in four unrelated patientsKatherine L Lachlan, Morag N Collinson, Richard O C Sandford, et al.Human Genetics|January 13, 2005
Genetic confirmation of facioscapulohumeral muscular dystrophy in a case with complex D4Z4 rearrangmentsBorian T Buzhov, Richard J L F Lemmers, Ivailo Tournev, et al.Human Genetics|December 23, 2004
Expression studies of mutations underlying Taiwanese Hunter syndrome (mucopolysaccharidosis type II)Jui-Hung Chang, Shuan-Pei Lin, Shu-Chuan Lin, et al.Human Genetics|January 19, 1979
Origin of the extra chromosome in trisomy 21J F Mattei, M G Mattei, S Ayme, et al.Human Genetics|February 24, 2005
Genes and human elite athletic performanceDaniel G Macarthur, Kathryn N NorthHuman Genetics|March 1, 1992
Detection of a common mutation of the catalase gene in Japanese acatalasemic patientsY Kishimoto, Y Murakami, K Hayashi, et al.Human Genetics|March 1, 1992
Genetic concepts in Greek literature from the eighth to the fourth century B.CE Bazopoulou-KyrkanidouPageof 957