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Journal of Human Genetics|March 12, 2008
Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophyJorge Oliveira, Isabel Soares-Silva, Ivo Fokkema, et al.Journal of Human Genetics|April 4, 2014
Genome-wide analysis of CNV (copy number variation) and their associations with narcolepsy in a Japanese populationMaria Yamasaki, Taku Miyagawa, Hiromi Toyoda, et al.Journal of Human Genetics|April 4, 2014
Oculofaciocardiodental syndrome: novel BCOR mutations and expression in dental cellsThunyaporn Surapornsawasd, Takuya Ogawa, Michiko Tsuji, et al.Journal of Human Genetics|December 16, 2016
Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defectsGoknur Haliloglu, Kerstin Becker, Cagri Temucin, et al.Journal of Human Genetics|March 8, 2006
TCR variable gene involvement in chromosome inversion between 14q11 and 14q24 in adult T-cell leukemiaShawkat Haider, Kousuke Hayakawa, Takahiro Itoyama, et al.Journal of Human Genetics|December 13, 2007
Gene dosage change of TPTE and BAGE2 and breakpoint analysis in Robertsonian Down syndromeSheng-Wen Shaw, Chih-Ping Chen, Po-Jen Cheng, et al.Journal of Human Genetics|March 11, 2006
Polymorphisms in the ABO blood group gene in three populations in the New Georgia group of the Solomon IslandsJun Ohashi, Izumi Naka, Ryosuke Kimura, et al.Journal of Human Genetics|February 16, 2006
A novel compound heterozygous mutation in the thyroglobulin gene resulting in congenital goitrous hypothyroidism with high serum triiodothyronine levelsSachiko Kitanaka, Ayaka Takeda, Utako Sato, et al.Journal of Human Genetics|February 16, 2006
The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South AmericaRoser Urreizti, Carla Asteggiano, Marta Bermudez, et al.Journal of Human Genetics|May 16, 2006
The -822G/A polymorphism in the promoter region of the MAP4K5 gene is associated with reduced risk of type 2 diabetes in Chinese Hans from ShanghaiYanyun Gu, Tianhong Luo, Jian Yang, et al.Pageof 351