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Journal of Human Genetics|August 19, 2008
Monozygotic female twins discordant for Silver-Russell syndrome and hypomethylation of the H19-DMRKazuki Yamazawa, Masayo Kagami, Maki Fukami, et al.Journal of Human Genetics|November 29, 2013
Common and rare single nucleotide polymorphisms in the LDLR gene are present in a black South African population and associate with low-density lipoprotein cholesterol levelsTertia van Zyl, Johann C Jerling, Karin R Conradie, et al.Journal of Human Genetics|October 11, 2013
Polymorphism -2604G>A variants in TLR4 promoter are associated with different gene expression level in peripheral blood of atherosclerotic patientsSilvia Ferronato, Macarena Gomez-Lira, Marta Menegazzi, et al.Journal of Human Genetics|September 7, 2007
Structural and biochemical studies on Pompe disease and a "pseudodeficiency of acid alpha-glucosidase"Youichi Tajima, Fumiko Matsuzawa, Sei-Ichi Aikawa, et al.Journal of Human Genetics|September 7, 2007
Spectrum and prevalence of autosomal dominant spinocerebellar ataxia in Hokkaido, the northern island of Japan: a study of 113 Japanese familiesRehana Basri, Ichiro Yabe, Hiroyuki Soma, et al.Journal of Human Genetics|September 14, 2007
U7 snRNA-mediated correction of aberrant splicing caused by activation of cryptic splice sitesHideki Uchikawa, Katsunori Fujii, Yoichi Kohno, et al.Journal of Human Genetics|May 21, 2010
Common polymorphisms in ITGA2, PON1 and THBS2 are associated with coronary atherosclerosis in a candidate gene association study of the Chinese Han populationYing Wang, Wenqing Fu, Fang Xie, et al.Journal of Human Genetics|May 21, 2010
Genetic origin of Kadai-speaking Gelong people on Hainan island viewed from Y chromosomesDongna Li, Yuantian Sun, Yan Lu, et al.Journal of Human Genetics|May 21, 2010
Mutational analysis of GABRG2 in a Japanese cohort with childhood epilepsiesXiuyu Shi, Ming-Chih Huang, Atsushi Ishii, et al.Journal of Human Genetics|May 8, 2010
Global distribution of Y-chromosome haplogroup C reveals the prehistoric migration routes of African exodus and early settlement in East AsiaHua Zhong, Hong Shi, Xue-Bin Qi, et al.Pageof 352