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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.Journal of Human Genetics|July 20, 2007
Identifying haplotype block structure using an ancestor-derived modelHironori Fujisawa, Minoru Isomura, Shinto Eguchi, et al.Journal of Human Genetics|July 20, 2007
Comparison of ENCODE region SNPs between Cebu Filipino and Asian HapMap samplesAmanda F Marvelle, Leslie A Lange, Li Qin, et al.Journal of Human Genetics|June 27, 2008
Significant association of ABCG8:D19H gene polymorphism with hypercholesterolemia and insulin resistanceZhih-Cherng Chen, Shyi-Jang Shin, Kung-Kai Kuo, et al.Journal of Human Genetics|October 25, 2006
ADAM33 polymorphisms are associated with aspirin-intolerant asthma in the Japanese populationTakuro Sakagami, Nobuyoshi Jinnai, Toshiaki Nakajima, et al.Pageof 353