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Journal of Human Genetics|April 29, 2020
Intronic variant in IQGAP3 associated with hereditary neuropathy with proximal lower dominancy, urinary disturbance, and paroxysmal dry coughShiroh Miura, Kengo Kosaka, Tomofumi Shimojo, et al.Journal of Human Genetics|July 17, 2015
Revisited HLA and non-HLA genetics of Takayasu arteritis--where are we?Chikashi TeraoJournal of Human Genetics|July 17, 2015
Carrier frequency of the GJB2 mutations that cause hereditary hearing loss in the Japanese populationMirei Taniguchi, Hirotaka Matsuo, Seiko Shimizu, et al.Journal of Human Genetics|June 19, 2015
Disease susceptibility genes shared by primary biliary cirrhosis and Crohn's disease in the Japanese populationYoshihiro Aiba, Keiko Yamazaki, Nao Nishida, et al.Journal of Human Genetics|May 22, 2015
Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiencyJin-Ho Choi, Beom Hee Lee, Ja Hye Kim, et al.Journal of Human Genetics|July 24, 2015
Distribution of HLA haplotypes across Japanese Archipelago: similarity, difference and admixtureHirofumi Nakaoka, Ituro InoueJournal of Human Genetics|July 22, 2016
Recent trends in microRNA research into breast cancer with particular focus on the associations between microRNAs and intrinsic subtypesSasagu Kurozumi, Yuri Yamaguchi, Masafumi Kurosumi, et al.Journal of Human Genetics|April 17, 2020
Long-read DNA sequencing fully characterized chromothripsis in a patient with Langer-Giedion syndrome and Cornelia de Lange syndrome-4Ming Lei, Desheng Liang, Yifeng Yang, et al.Journal of Human Genetics|April 12, 2020
Genome-wide meta-analysis identifies novel loci associated with age-related macular degenerationXikun Han, Puya Gharahkhani, Paul Mitchell, et al.Journal of Human Genetics|August 19, 2016
Clinical and genetic features of 13 Spanish patients with KCNQ2 mutationsMontesclaros Hortigüela, Ana Fernández-Marmiesse, Verónica Cantarín, et al.Pageof 353