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Journal of Human Genetics|December 16, 2022
Genome sequencing identifies a large non-coding region deletion of SNX10 causing autosomal recessive osteopetrosisPrajna Udupa, Debasish Kumar Ghosh, Neethukrishna Kausthubham, et al.Journal of Human Genetics|December 19, 2022
De novo CLCN3 variants affecting Gly327 cause severe neurodevelopmental syndrome with brain structural abnormalitiesMitsuko Nakashima, Emanuela Argilli, Sayaka Nakano, et al.Journal of Human Genetics|January 4, 2023
PSMC6 induces immune cell infiltration and inflammatory response to aggravate primary Sjögren's syndromeYongzhu Piao, Yutong Qi, Hao Zhang, et al.Journal of Human Genetics|January 4, 2023
Genetic factors associated with serum amylase in a Japanese population: combined analysis of copy-number and single-nucleotide variantsZannatun Nayema, Takehiro Sato, Takayuki Kannon, et al.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.Pageof 353