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Journal of Human Genetics|May 28, 2003
Identification of mutations in the Bruton's tyrosine kinase gene, including a novel genomic rearrangements resulting in large deletion, in Korean X-linked agammaglobulinemia patientsEun-Kyeong Jo, Yue Wang, Hirokazu Kanegane, et al.Journal of Human Genetics|May 28, 2003
Identification of cartilage oligomeric matrix protein (COMP) gene mutations in patients with pseudoachondroplasia and multiple epiphyseal dysplasiaHae-Ryong Song, Kwang-Soo Lee, Qi-Wei Li, et al.Journal of Human Genetics|May 28, 2003
The medaka fish Tol2 transposable element can undergo excision in human and mouse cellsAkihiko Koga, Atsuo Iida, Megumi Kamiya, et al.Journal of Human Genetics|May 28, 2003
Association of interleukin-6 promoter variant with bone mineral density in pre-menopausal womenHye Won Chung, Jeong-Sun Seo, Sung Eun Hur, et al.Journal of Human Genetics|May 28, 2003
Two cases of glucose-6-phosphate dehydrogenase-deficient Nepalese belonging to the G6PD Mediterranean-type, not India-Pakistan sub-type but Mediterranean-Middle East sub-typeHiroyuki Matsuoka, Wang Jichun, Makoto Hirai, et al.Journal of Human Genetics|May 28, 2003
Identification of novel polymorphisms in the Adam33 geneSoo-Cheon Chae, Kwon-Ha Yoon, Hun-Taeg ChungJournal of Human Genetics|May 25, 2012
Atypical hemolytic uremic syndrome and genetic aberrations in the complement factor H-related 5 geneDineke Westra, Katherine A Vernon, Elena B Volokhina, et al.Journal of Human Genetics|March 22, 2013
Association of CFTR gene variants with nontuberculous mycobacterial lung disease in a Korean population with a low prevalence of cystic fibrosisMi-Ae Jang, Su-Young Kim, Byeong-Ho Jeong, et al.Journal of Human Genetics|April 27, 2012
Differences in allele frequencies of autosomal dominant hypercholesterolemia SNPs in the Malaysian populationLivy Alex, Jagdish Kaur Chahil, Say Hean Lye, et al.Journal of Human Genetics|October 21, 2011
Polymorphisms of transforming growth factor-β signaling pathway and Kawasaki disease in the Taiwanese populationHo-Chang Kuo, Yoshihiro Onouchi, Yu-Wen Hsu, et al.Pageof 351