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Journal of Human Genetics|January 4, 2023
A new association of PAX6 variation with Juvenile onset open angle glaucomaViney Gupta, Bindu I Somarajan, Shikha Gupta, et al.Journal of Human Genetics|October 15, 2010
A Japanese trichothiodystrophy patient with XPD mutationsTouhei Usuda, Masafumi Saijo, Kiyoji Tanaka, et al.Journal of Human Genetics|February 11, 2011
Functional analysis of recently identified mutations in eukaryotic translation initiation factor 2Bɛ (eIF2Bɛ) identified in Chinese patients with vanishing white matter diseaseXuerong Leng, Ye Wu, Xuemin Wang, et al.Journal of Human Genetics|February 11, 2011
Clinical application of fetal sex determination using cell-free fetal DNA in pregnant carriers of X-linked genetic disordersKiyonori Miura, Ai Higashijima, Takako Shimada, et al.Journal of Human Genetics|December 17, 2010
Identification of a FUS splicing mutation in a large family with amyotrophic lateral sclerosisVéronique V Belzil, Judith St-Onge, Hussein Daoud, et al.Journal of Human Genetics|December 17, 2010
Identification of novel MLC1 mutations in Chinese patients with megalencephalic leukoencephalopathy with subcortical cysts (MLC)Jingmin Wang, Jing Shang, Ye Wu, et al.Journal of Human Genetics|December 24, 2010
Association of ADAM33 gene polymorphisms with asthma in Indian childrenShally Awasthi, Priya Tripathi, Subramaniam Ganesh, et al.Journal of Human Genetics|December 24, 2010
Prevalence of c.1559delT in ALPL, a common mutation resulting in the perinatal (lethal) form of hypophosphatasia in Japanese and effects of the mutation on heterozygous carriersAtsushi Watanabe, Tatsuki Karasugi, Hideaki Sawai, et al.Journal of Human Genetics|January 14, 2011
Impact of LIMK1, MMP2 and TNF-α variations for intracranial aneurysm in Japanese populationSiew-Kee Low, Hitoshi Zembutsu, Atsushi Takahashi, et al.Journal of Human Genetics|February 4, 2011
MicroRNA-141 confers resistance to cisplatin-induced apoptosis by targeting YAP1 in human esophageal squamous cell carcinomaYukako Imanaka, Soken Tsuchiya, Fumiaki Sato, et al.Pageof 351