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Journal of Human Genetics|February 7, 2018
Cerebellar ataxia-dominant phenotype in patients with ERCC4 mutationsHiroshi Doi, Shigeru Koyano, Satoko Miyatake, et al.Journal of Human Genetics|February 8, 2018
A novel homozygous DPH1 mutation causes intellectual disability and unique craniofacial featuresFutoshi Sekiguchi, Jafar Nasiri, Maryam Sedghi, et al.Journal of Human Genetics|December 7, 2017
The Y-chromosome haplogroup C3*-F3918, likely attributed to the Mongol Empire, can be traced to a 2500-year-old nomadic groupYe Zhang, Xiyan Wu, Jiawei Li, et al.Journal of Human Genetics|December 8, 2017
Association detection between ordinal trait and rare variants based on adaptive combination of P valuesMeida Wang, Weijun Ma, Ying ZhouJournal of Human Genetics|December 8, 2017
Variants of ALPK1 with ABCG2, SLC2A9, and SLC22A12 increased the positive predictive value for goutHung-Pin Tu, Albert Min-Shan Ko, Su-Shin Lee, et al.Journal of Human Genetics|December 8, 2017
Mitogenomic diversity and differentiation of the BuryatsMiroslava Derenko, Galina Denisova, Boris Malyarchuk, et al.Journal of Human Genetics|December 8, 2017
Genetic predisposition to infection in a case of atypical hemolytic uremic syndromeLambertus van den Heuvel, Kristian Riesbeck, Omaima El Tahir, et al.Journal of Human Genetics|December 8, 2017
Mitochondrial DNA variations in Austronesian-speaking populations living in the New Georgia Islands, the Western Province of the Solomon IslandsMariko Issiki, Izumi Naka, Ryosuke Kimura, et al.Journal of Human Genetics|December 8, 2017
Improvement in the sensitivity of newborn screening for Fabry disease among females through the use of a high-throughput and cost-effective method, DNA mass spectrometryYung-Hsiu Lu, Po-Hsun Huang, Li-Yun Wang, et al.Journal of Human Genetics|January 12, 2018
Clinical and mutational spectrum of Japanese patients with recessive variants in SH3TC2Jun-Hui Yuan, Akihiro Hashiguchi, Yuji Okamoto, et al.Pageof 353