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Journal of Human Genetics|May 29, 2002
Novel missense mutation (R94S) in the TAZ ( G4.5) gene in a Japanese patient with Barth syndromeOsamu Sakamoto, Toshiyuki Kitoh, Toshihiro Ohura, et al.Journal of Human Genetics|May 29, 2002
The CpG island in intron 22 of the factor VIII gene is predominantly methylated on the X chromosome of human malesCarlos D De Brasi, Derrick J Bowen, Peter W Collins, et al.Journal of Human Genetics|May 29, 2002
Association of autism in two patients with hereditary multiple exostoses caused by novel deletion mutations of EXT1Hung Li, Takanori Yamagata, Masato Mori, et al.Journal of Human Genetics|October 12, 2002
Catalog of 86 single-nucleotide polymorphisms (SNPs) in three uridine diphosphate glycosyltransferase genes: UGT2A1, UGT2B15, and UGT8Aritoshi Iida, Susumu Saito, Akihiro Sekine, et al.Journal of Human Genetics|October 12, 2002
Familial 14-Mb deletion at 21q11.2-q21.3 and variable phenotypic expressionKeiko Wakui, Atsushi Toyoda, Takeo Kubota, et al.Journal of Human Genetics|October 12, 2002
Structural analysis of the chimeric CYP21P/CYP21 gene in steroid 21-hydroxylase deficiencyHsien-Hsiung Lee, Dau-Ming Niu, Ruey-Wen Lin, et al.Journal of Human Genetics|October 12, 2002
Yfm1, a multicopy marker specific for the Y chromosome and beneficial for forensic, population, genetic, and spermatogenesis-related studiesAshraf A Ewis, Juwon W Lee, Yoko Kuroki, et al.Journal of Human Genetics|October 12, 2002
Ovarian cancer of endometrioid type as part of the MSH6gene mutation phenotypeJanina Suchy, Grzegorz Kurzawski, Anna Jakubowska, et al.Journal of Human Genetics|October 12, 2002
No intraindividual variation of disomy rate in sperm samplesAliza Amiel, Benjamin Bartoov, Dina Pevsner, et al.Journal of Human Genetics|October 12, 2002
Comparative study on deletions of the dystrophin gene in three Asian populationsPoh-San Lai, Yasuhiro Takeshima, Kayo Adachi, et al.Pageof 351