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Journal of Human Genetics|February 1, 2003
Genotype and haplotype distributions of MTHFR677C>T and 1298A>C single nucleotide polymorphisms: a meta-analysisShuji Ogino, Robert B WilsonJournal of Human Genetics|October 21, 2016
Novel mutations in FKBP10 in Chinese patients with osteogenesis imperfecta and their treatment with zoledronic acidXiao-Jie Xu, Fang Lv, Yi Liu, et al.Journal of Human Genetics|October 14, 2016
A novel founder MYO15A frameshift duplication is the major cause of genetic hearing loss in OmanFlavia Palombo, Nadia Al-Wardy, Guido Alberto Gnecchi Ruscone, et al.Journal of Human Genetics|March 31, 2017
Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndromeAnju Shukla, Malavika Hebbar, Anshika Srivastava, et al.Journal of Human Genetics|March 31, 2017
Combined pituitary hormone deficiency due to gross deletions in the POU1F1 (PIT-1) and PROP1 genesEleonore Bertko, Jürgen Klammt, Petra Dusatkova, et al.Journal of Human Genetics|March 31, 2017
Successful newborn screening for Gaucher disease using fluorometric assay in ChinaLulu Kang, Xia Zhan, Xuefan Gu, et al.Journal of Human Genetics|March 17, 2017
Gain-of-function mutation p.Arg225Cys in SCN11A causes familial episodic pain and contributes to essential tremorXue-Rong Leng, Xiao-Hong Qi, Yong-Tao Zhou, et al.Journal of Human Genetics|March 24, 2017
Identification of a novel heterozygous mutation of the Aggrecan gene in a family with idiopathic short stature and multiple intervertebral disc herniationSumito Dateki, Akiko Nakatomi, Satoshi Watanabe, et al.Journal of Human Genetics|April 7, 2017
The genomic dynamics during progression of lung adenocarcinomasBin Yang, Longhai Luo, Wen Luo, et al.Journal of Human Genetics|April 25, 2014
The screening of the 3'UTR sequence of LRRK2 identified an association between the rs66737902 polymorphism and Parkinson's diseaseLucía F Cardo, Eliecer Coto, René Ribacoba, et al.Pageof 353