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Journal of Human Genetics|June 7, 2013
Regional DNA methylation differences between humans and chimpanzees are associated with genetic changes, transcriptional divergence and disease genesKei Fukuda, Kenji Ichiyanagi, Yoichi Yamada, et al.Journal of Human Genetics|June 28, 2013
Quantitative analysis of methylation status at 11p15 and 7q21 for the genetic diagnosis of Beckwith-Wiedemann syndrome and Silver-Russell syndromeBeom Hee Lee, Gu-Hwan Kim, Tae Jeong Oh, et al.Journal of Human Genetics|June 14, 2013
The novel mutation p.Asp251Asn in the β-subunit of succinate-CoA ligase causes encephalomyopathy and elevated succinylcarnitineElham Jaberi, Fereshteh Chitsazian, Gholam Ali Shahidi, et al.Journal of Human Genetics|March 2, 2012
A unique demographic history exists for the MAO-A gene in PolynesiansDavid A Eccles, Donia Macartney-Coxson, Geoffrey K Chambers, et al.Journal of Human Genetics|October 4, 2013
Three novel mutations in the carnitine-acylcarnitine translocase (CACT) gene in patients with CACT deficiency and in healthy individualsTakao Fukushima, Hidetoshi Kaneoka, Tetsuhiko Yasuno, et al.Journal of Human Genetics|March 28, 2002
Molecular analysis of mutations and polymorphisms of the Lewis secretor type alpha(1,2)-fucosyltransferase gene reveals that Taiwan aborigines are of Austronesian derivationJan-Gowth Chang, Ying-Chin Ko, James Chun-I Lee, et al.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.Pageof 353