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Journal of Human Genetics|January 29, 2016
De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizuresRyoko Fukai, Hirotomo Saitsu, Yoshinori Tsurusaki, et al.Journal of Human Genetics|November 20, 2015
Whole-exome sequencing and neurite outgrowth analysis in autism spectrum disorderRyota Hashimoto, Takanobu Nakazawa, Yoshinori Tsurusaki, et al.Journal of Human Genetics|January 15, 2016
An effective screening strategy for deafness in combination with a next-generation sequencing platform: a consecutive analysisNaoko Sakuma, Hideaki Moteki, Masahiro Takahashi, et al.Journal of Human Genetics|January 15, 2016
De novo missense mutations in NALCN cause developmental and intellectual impairment with hypotoniaRyoko Fukai, Hirotomo Saitsu, Nobuhiko Okamoto, et al.Journal of Human Genetics|January 8, 2016
SNP array screening of cryptic genomic imbalances in 450 Japanese subjects with intellectual disability and multiple congenital anomalies previously negative for large rearrangementsDaniela Tiaki Uehara, Shin Hayashi, Nobuhiko Okamoto, et al.Journal of Human Genetics|January 8, 2016
Investigation of associations between ten polymorphisms and the risk of coronary artery disease in Southern Han ChineseEr-Wen Huang, Long-Yun Peng, Jin-Xiang Zheng, et al.Journal of Human Genetics|October 9, 2015
Co-occurrence of nonsense mutations in MSH6 and MSH2 in Lynch syndrome families evidencing that not all truncating mutations are equalCarla Pinto, Manuela Pinheiro, Ana Peixoto, et al.Journal of Human Genetics|October 16, 2015
BMPER variants associated with a novel, attenuated subtype of diaphanospondylodysostosisZheyuan Zong, Susan Tees, Firoz Miyanji, et al.Journal of Human Genetics|November 13, 2015
A de novo mosaic mutation of PHEX in a boy with hypophosphatemic ricketsChen Weng, Jiao Chen, Li Sun, et al.Journal of Human Genetics|March 18, 2016
Nineteen-year follow-up of a patient with severe glutathione synthetase deficiencyPaldeep S Atwal, Casey R Medina, Lindsay C Burrage, et al.Pageof 351