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Journal of Human Genetics|March 28, 2002
Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE)Tomohiko Kayashima, Hidenori Matsuo, Akira Satoh, et al.Journal of Human Genetics|March 28, 2002
Distinctive distribution of AIM1 polymorphism among major human populations with different skin colorKazuhiro Nakayama, Shoji Fukamachi, Hiroshi Kimura, et al.Journal of Human Genetics|April 13, 2002
Analysis of novel and recurrent mutations responsible for the tricho-rhino-phalangeal syndromesMatthew J Hilton, Jacob M Sawyer, Laura Gutiérrez, et al.Journal of Human Genetics|April 13, 2002
Evidence for the de novo regeneration of the pattern of the length heteroplasmy associated with the T16189C variant in the control (D-loop) region of mitochondrial DNASafarina Malik, Herawati Sudoyo, Patcharin Pramoonjago, et al.Journal of Human Genetics|April 2, 2002
Mutational and haplotype analysis of AGL in patients with glycogen storage disease type IIIAsako Horinishi, Minoru Okubo, Nelson L S Tang, et al.Journal of Human Genetics|December 21, 2005
ALDH2 and CYP2E1 genotypes, urinary acetaldehyde excretion and the health consequences in moderate alcohol consumersYuichi Yamada, Tsunehiko Imai, Masao Ishizaki, et al.Journal of Human Genetics|December 24, 2005
The CAG repeat at the Huntington disease gene in the Portuguese population: insights into its dynamics and to the origin of the mutationMaria do Carmo Costa, Paula Magalhães, Laura Guimarães, et al.Journal of Human Genetics|December 24, 2005
Association study of semaphorin 7a (sema7a) polymorphisms with bone mineral density and fracture risk in postmenopausal Korean womenJung-Min Koh, Bermseok Oh, Jong Yong Lee, et al.Journal of Human Genetics|November 28, 2009
CFTR allelic heterogeneity in Brazil: historical and geographical perspectives and implications for screening and counseling for cystic fibrosis in this countryFabio R Faucz, Denise A S Souza, Marcia Olandoski, et al.Journal of Human Genetics|November 18, 2005
Association of CD14 promoter polymorphisms and soluble CD14 levels in mite allergen sensitization of children in TaiwanChoon-Yee Tan, Yi-Lin Chen, Lawrence Shih-Hsin Wu, et al.Pageof 352