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Journal of Human Genetics|April 5, 2013
Exome sequencing identifies a novel INPPL1 mutation in opsismodysplasiaAritoshi Iida, Nobuhiko Okamoto, Noriko Miyake, et al.Journal of Human Genetics|May 31, 2013
Metabolism-epigenome crosstalk in physiology and diseasesShinjiro Hino, Katsuya Nagaoka, Mitsuyoshi NakaoJournal of Human Genetics|May 31, 2013
A replication study for three nephrolithiasis loci at 5q35.3, 7p14.3 and 13q14.1 in the Japanese populationTakahiro Yasui, Atsushi Okada, Yuji Urabe, et al.Journal of Human Genetics|May 31, 2013
Identification of functional nucleotide and haplotype variants in the promoter of the CEBPE geneHyunju Ryoo, Minyoung Kong, Younyoung Kim, et al.Journal of Human Genetics|May 3, 2013
A nonsynonymous variant of IL1A is associated with endometriosis in Japanese populationYuki Hata, Hirofumi Nakaoka, Kosuke Yoshihara, et al.Journal of Human Genetics|May 3, 2013
Follow-up nationwide survey on predictive genetic testing for late-onset hereditary neurological diseases in JapanKeiko Tanaka, Yoshiki Sekijima, Kunihiro Yoshida, et al.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.Pageof 353