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Journal of Human Genetics|December 8, 2017
Charcot-Marie-Tooth disease type 2A with an autosomal-recessive inheritance: the first report of an adult-onset diseaseRyota Hikiami, Hirofumi Yamashita, Natsuko Koita, et al.Journal of Human Genetics|December 8, 2017
Expression QTL analysis of glaucoma endophenotypes in the Norfolk Island isolate provides evidence that immune-related genes are associated with optic disc sizePik Fang Kho, Rodney A Lea, Miles C Benton, et al.Journal of Human Genetics|December 24, 2017
Decisional conflict and regret: shared decision-making about pregnancy affected by β-thalassemia major in Southeast of IranZahra Moudi, Zenab Phanodi, Hossein Ansari, et al.Journal of Human Genetics|December 28, 2017
Detection of de novo single nucleotide variants in offspring of atomic-bomb survivors close to the hypocenter by whole-genome sequencingMakiko Horai, Hiroyuki Mishima, Chisa Hayashida, et al.Journal of Human Genetics|February 8, 2019
Characterization of a family mutation in the 5' untranslated region of the endoglin gene causative of hereditary hemorrhagic telangiectasiaLidia Ruiz-Llorente, Jamie McDonald, Whitney Wooderchak-Donahue, et al.Journal of Human Genetics|December 25, 2019
Variant in ERAP1 promoter region is associated with low expression in a patient with a Behçet-like MHC-I-opathyChrysoula Dimopoulou, Jens D Lundgren, Jon Sundal, et al.Journal of Human Genetics|March 14, 2018
Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysisAlessia Catania, Anna Ardissone, Daniela Verrigni, et al.Journal of Human Genetics|February 21, 2018
Development of ultra-deep targeted RNA sequencing for analyzing X-chromosome inactivation in female Dent diseaseShogo Minamikawa, Kandai Nozu, Yoshimi Nozu, et al.Journal of Human Genetics|February 21, 2018
Biochemical validation of EHMT1 missense mutations in Kleefstra syndromeAyumi Yamada, Chikako Shimura, Yoichi ShinkaiJournal of Human Genetics|July 8, 2016
MicroRNAs in extracellular vesicles: potential cancer biomarkersTakashi Kinoshita, Kenneth W Yip, Tara Spence, et al.Pageof 353