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Journal of Human Genetics|July 9, 2008
Comparison of multivariate adaptive regression splines and logistic regression in detecting SNP-SNP interactions and their application in prostate cancerHui-Yi Lin, Wenquan Wang, Yung-Hsin Liu, et al.Journal of Human Genetics|July 5, 2008
Response to genetic manipulations of liver angiotensinogen in the physiological rangeBarbu Gociman, Andreas Rohrwasser, Elaine Hillas, et al.Journal of Human Genetics|July 25, 2008
Cryptic 7q21 and 9p23 deletions in a patient with apparently balanced de novo reciprocal translocation t(7;9)(q21;p23) associated with a dystonia-plus syndrome: paternal deletion of the epsilon-sarcoglycan (SGCE) geneC Bonnet, M-J Grégoire, M Vibert, et al.Journal of Human Genetics|July 25, 2008
Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndromeYoko Narumi, Yoko Aoki, Tetsuya Niihori, et al.Journal of Human Genetics|May 31, 2007
A novel PEX12 mutation identified as the cause of a peroxisomal biogenesis disorder with mild clinical phenotype, mild biochemical abnormalities in fibroblasts and a mosaic catalase immunofluorescence pattern, even at 40 degrees CAvraham Zeharia, Merel S Ebberink, Ronald J A Wanders, et al.Journal of Human Genetics|February 21, 2007
Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiencyKeiji Kurokawa, Tohru Yorifuji, Masahiko Kawai, et al.Journal of Human Genetics|February 24, 2007
Identification of polymorphisms in human interleukin-27 and their association with asthma in a Korean populationSoo-Cheon Chae, Chun-Shi Li, Ki Mo Kim, et al.Journal of Human Genetics|April 18, 2007
An 11-bp duplication in the promoter region of the VHL gene in a patient with cerebellar hemangioblastoma and renal oncocytomaLucia Anna Muscarella, Raffaela Barbano, Bartolomeo Augello, et al.Journal of Human Genetics|May 13, 2006
A two-stage design for multiple testing in large-scale association studiesShu-Hui Wen, Jung-Ying Tzeng, Jau-Tsuen Kao, et al.Journal of Human Genetics|June 22, 2006
Four mutations of the spastin gene in Japanese families with spastic paraplegiaRehana Basri, Ichiro Yabe, Hiroyuki Soma, et al.Pageof 352