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Journal of Human Genetics|May 17, 2014
A labor- and cost-effective non-optical semiconductor (Ion Torrent) next-generation sequencing of the SLC12A3 and CLCNKA/B genes in Gitelman's syndrome patientsBeatriz Tavira, Juan Gómez, Fernando Santos, et al.Journal of Human Genetics|May 17, 2014
Genetic polymorphism 609C>T in NAD(P)H:quinone oxidoreductase 1 enhances the risk of proximal colon cancerJolien J M Freriksen, Jody Salomon, Hennie M J Roelofs, et al.Journal of Human Genetics|May 23, 2014
Mild reduction of plasmalogens causes rhizomelic chondrodysplasia punctata: functional characterization of a novel mutationMasafumi Noguchi, Masanori Honsho, Yuichi Abe, et al.Journal of Human Genetics|May 23, 2014
Severe exacerbation of Andersen-Tawil syndrome secondary to thyrotoxicosisJordi Díaz-Manera, Luis Querol, Aída Alejaldre, et al.Journal of Human Genetics|May 23, 2014
Mutation profile of BBS genes in Iranian patients with Bardet-Biedl syndrome: genetic characterization and report of nine novel mutations in five BBS genesZohreh Fattahi, Parvin Rostami, Amin Najmabadi, et al.Journal of Human Genetics|January 17, 2014
Mitochondrial haplotypes may modulate the phenotypic manifestation of the LHON-associated ND1 G3460A mutation in Chinese familiesYanchun Ji, Min Liang, Juanjuan Zhang, et al.Journal of Human Genetics|January 17, 2014
Types of DNA methylation status of the interspersed repetitive sequences for LINE-1, Alu, HERV-E and HERV-K in the neutrophils from systemic lupus erythematosus patients and healthy controlsPatadon Sukapan, Paramate Promnarate, Yingyos Avihingsanon, et al.Journal of Human Genetics|June 27, 2014
ZRS 406A>G mutation in patients with tibial hypoplasia, polydactyly and triphalangeal first fingersPhatchara Norbnop, Chalurmpon Srichomthong, Kanya Suphapeetiporn, et al.Journal of Human Genetics|June 27, 2014
Causative novel PNKP mutations and concomitant PCDH15 mutations in a patient with microcephaly with early-onset seizures and developmental delay syndrome and hearing lossMitsuko Nakashima, Kyoko Takano, Hitoshi Osaka, et al.Journal of Human Genetics|June 13, 2014
Comparison of the performance of Ion Torrent chips in noninvasive prenatal trisomy detectionYanlin Wang, Zujia Wen, Jiawei Shen, et al.Pageof 351