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Journal of Human Genetics|April 18, 2014
Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndromeChong Kun Cheon, Young Bae Sohn, Jung Min Ko, et al.Journal of Human Genetics|February 14, 2014
Riboflavin-responsive multiple Acyl-CoA dehydrogenation deficiency in 13 cases, and a literature review in mainland Chinese patientsMin Zhu, Xuan Zhu, Xueliang Qi, et al.Journal of Human Genetics|February 14, 2014
Single human papillomavirus 16 or 52 infection and later cytological findings in Japanese women with NILM or ASC-USShuhei Abe, Kiyonori Miura, Akira Kinoshita, et al.Journal of Human Genetics|March 10, 2017
Characterization of contiguous gene deletions in COL4A6 and COL4A5 in Alport syndrome-diffuse leiomyomatosisKandai Nozu, Shogo Minamikawa, Shiro Yamada, et al.Journal of Human Genetics|March 10, 2017
The microRNA expression signature of small cell lung cancer: tumor suppressors of miR-27a-5p and miR-34b-3p and their targeted oncogenesKeiko Mizuno, Hiroko Mataki, Takayuki Arai, et al.Journal of Human Genetics|February 17, 2017
Imputation approach for deducing a complete mitogenome sequence from low-depth-coverage next-generation sequencing data: application to ancient remains from the Moon Pyramid, MexicoFuzuki Mizuno, Masahiko Kumagai, Kunihiko Kurosaki, et al.Journal of Human Genetics|December 9, 2016
TBCD may be a causal gene in progressive neurodegenerative encephalopathy with atypical infantile spinal muscular atrophyToshio Ikeda, Akihiko Nakahara, Rie Nagano, et al.Journal of Human Genetics|December 23, 2016
Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nailsAriana Kariminejad, Norbert Fonya Ajeawung, Bita Bozorgmehr, et al.Journal of Human Genetics|December 16, 2016
Association of a single nucleotide polymorphism upstream of ICOS with Japanese autoimmune hepatitis type 1Takashi Higuchi, Shomi Oka, Hiroshi Furukawa, et al.Journal of Human Genetics|December 16, 2016
Comparison of the phenotypes of patients harboring in-frame deletions starting at exon 45 in the Duchenne muscular dystrophy gene indicates potential for the development of exon skipping therapyAkinori Nakamura, Naoko Shiba, Daigo Miyazaki, et al.Pageof 353