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Journal of Human Genetics|March 31, 2017
Combined pituitary hormone deficiency due to gross deletions in the POU1F1 (PIT-1) and PROP1 genesEleonore Bertko, Jürgen Klammt, Petra Dusatkova, et al.Journal of Human Genetics|March 31, 2017
Successful newborn screening for Gaucher disease using fluorometric assay in ChinaLulu Kang, Xia Zhan, Xuefan Gu, et al.Journal of Human Genetics|March 17, 2017
Gain-of-function mutation p.Arg225Cys in SCN11A causes familial episodic pain and contributes to essential tremorXue-Rong Leng, Xiao-Hong Qi, Yong-Tao Zhou, et al.Journal of Human Genetics|March 24, 2017
Identification of a novel heterozygous mutation of the Aggrecan gene in a family with idiopathic short stature and multiple intervertebral disc herniationSumito Dateki, Akiko Nakatomi, Satoshi Watanabe, et al.Journal of Human Genetics|April 7, 2017
The genomic dynamics during progression of lung adenocarcinomasBin Yang, Longhai Luo, Wen Luo, et al.Journal of Human Genetics|April 25, 2014
The screening of the 3'UTR sequence of LRRK2 identified an association between the rs66737902 polymorphism and Parkinson's diseaseLucía F Cardo, Eliecer Coto, René Ribacoba, et al.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.Pageof 351