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Journal of Human Genetics|March 29, 2013
Combined linkage analysis and exome sequencing identifies novel genes for familial goiterJunxia Yan, Tsutomu Takahashi, Toshihiro Ohura, et al.Journal of Human Genetics|June 7, 2013
DNA methylation of the BDNF gene and its relevance to psychiatric disordersTempei Ikegame, Miki Bundo, Yui Murata, et al.Journal of Human Genetics|June 7, 2013
Transmission of an FMR1 premutation allele in a large family identified through newborn screening: the role of AGG interruptionsCarolyn M Yrigollen, Guadalupe Mendoza-Morales, Randi Hagerman, et al.Journal of Human Genetics|June 7, 2013
Three novel ZBTB24 mutations identified in Japanese and Cape Verdean type 2 ICF syndrome patientsHirohisa Nitta, Motoko Unoki, Kenji Ichiyanagi, et al.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.Pageof 352