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Journal of Human Genetics|September 5, 2006
Four novel and three recurrent mutations of the BTK gene and pathogenic effects of putative splice mutationsDuangrurdee Wattanasirichaigoon, Suwat Benjaponpitak, Chonnamet Techasaensiri, et al.Journal of Human Genetics|August 10, 2006
The potential role of DFNA5, a hearing impairment gene, in p53-mediated cellular response to DNA damageYoshiko Masuda, Manabu Futamura, Hiroki Kamino, et al.Journal of Human Genetics|August 10, 2006
Refinement of the locus for autosomal recessive cone-rod dystrophy (CORD8) linked to chromosome 1q23-q24 in a Pakistani family and exclusion of candidate genesMuhammad Ismail, Aiysha Abid, Khalid Anwar, et al.Journal of Human Genetics|August 23, 2006
Association of SLC26A4 mutations with clinical features and thyroid function in deaf infants with enlarged vestibular aqueductSatoshi Iwasaki, Koji Tsukamoto, Shinichi Usami, et al.Journal of Human Genetics|April 6, 2006
A novel KCNQ4 one-base deletion in a large pedigree with hearing loss: implication for the genotype-phenotype correlationFumiaki Kamada, Shigeo Kure, Takayuki Kudo, et al.Journal of Human Genetics|April 8, 2006
A novel IL2RG mutation associated with maternal T lymphocyte engraftment in a patient with severe combined immunodeficiencyRichard Kellermayer, Amy P Hsu, József Stankovics, et al.Journal of Human Genetics|November 29, 2007
HapMap coverage for SNPs in the Japanese populationFumihiko Takeuchi, Masakuni Serizawa, Norihiro KatoJournal of Human Genetics|November 30, 2007
Glucose-6-phosphate dehydrogenase mutations in Mon and Burmese of southern MyanmarIssarang Nuchprayoon, Chalisa Louicharoen, Warisa CharoenvejJournal of Human Genetics|January 24, 2006
Austronesian origin of the 27-bp deletion of the erythrocyte band 3 gene in East Sepik, Papua New Guinea inferred from mtDNA analysisTakahiro Tsukahara, Francis Wanak Hombhanje, Jeffrey Koji Lum, et al.Journal of Human Genetics|January 25, 2006
Association of VKORC1 and CYP2C9 polymorphisms with warfarin dose requirements in Japanese patientsTaisei Mushiroda, Yozo Ohnishi, Susumu Saito, et al.Pageof 353