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Journal of Human Genetics|March 21, 2014
An emerging phenotype of Xq22 microdeletions in females with severe intellectual disability, hypotonia and behavioral abnormalitiesToshiyuki Yamamoto, Anna Wilsdon, Shelagh Joss, et al.Journal of Human Genetics|February 3, 2017
Subdivisions of haplogroups U and C encompass mitochondrial DNA lineages of Eneolithic-Early Bronze Age Kurgan populations of western North Pontic steppeAlexey G Nikitin, Svetlana Ivanova, Dmytro Kiosak, et al.Journal of Human Genetics|February 10, 2017
Band-like calcification with simplified gyration and polymicrogyria: report of 10 new families and identification of five novel OCLN mutationsMohamed S Abdel-Hamid, Ghada M H Abdel-Salam, Mahmoud Y Issa, et al.Journal of Human Genetics|January 27, 2017
A novel mutation in TAZ causes mitochondrial respiratory chain disorder without cardiomyopathyNurun N Borna, Yoshihito Kishita, Kaori Ishikawa, et al.Journal of Human Genetics|January 20, 2017
A novel sequence variant in SFRP4 causing Pyle diseaseChelna Galada, Hitesh Shah, Anju Shukla, et al.Journal of Human Genetics|January 20, 2017
Variants on chromosome 4q21 near PKD2 and SIBLINGs are associated with dental cariesScott Eckert, Eleanor Feingold, Margaret Cooper, et al.Journal of Human Genetics|January 20, 2017
Cryptic splice activation but not exon skipping is observed in minigene assays of dystrophin c.9361+1G>A mutation identified by NGSEmma Tabe Eko Niba, Atsushi Nishida, Van Khanh Tran, et al.Journal of Human Genetics|March 7, 2014
Mutation spectrum and genotype-phenotype correlation of hearing loss patients caused by SLC26A4 mutations in the Japanese: a large cohort studyMaiko Miyagawa, Shin-Ya Nishio, Shin-Ichi Usami, et al.Journal of Human Genetics|April 7, 2017
Genetic origin of α0-thalassemia (SEA deletion) in Southeast Asian populations and application to accurate prenatal diagnosis of Hb Bart's hydrops fetalis syndromeWittaya Jomoui, Goonnapa Fucharoen, Kanokwan Sanchaisuriya, et al.Journal of Human Genetics|April 7, 2017
TFAP2B mutation and dental anomaliesNatchaya Tanasubsinn, Rekwan Sittiwangkul, Yupada Pongprot, et al.Pageof 352