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Journal of Human Genetics|January 20, 2017
A novel sequence variant in SFRP4 causing Pyle diseaseChelna Galada, Hitesh Shah, Anju Shukla, et al.Journal of Human Genetics|January 20, 2017
Variants on chromosome 4q21 near PKD2 and SIBLINGs are associated with dental cariesScott Eckert, Eleanor Feingold, Margaret Cooper, et al.Journal of Human Genetics|January 20, 2017
Cryptic splice activation but not exon skipping is observed in minigene assays of dystrophin c.9361+1G>A mutation identified by NGSEmma Tabe Eko Niba, Atsushi Nishida, Van Khanh Tran, et al.Journal of Human Genetics|March 7, 2014
Mutation spectrum and genotype-phenotype correlation of hearing loss patients caused by SLC26A4 mutations in the Japanese: a large cohort studyMaiko Miyagawa, Shin-Ya Nishio, Shin-Ichi Usami, et al.Journal of Human Genetics|April 7, 2017
Genetic origin of α0-thalassemia (SEA deletion) in Southeast Asian populations and application to accurate prenatal diagnosis of Hb Bart's hydrops fetalis syndromeWittaya Jomoui, Goonnapa Fucharoen, Kanokwan Sanchaisuriya, et al.Journal of Human Genetics|April 7, 2017
TFAP2B mutation and dental anomaliesNatchaya Tanasubsinn, Rekwan Sittiwangkul, Yupada Pongprot, et al.Journal of Human Genetics|March 3, 2017
Prevalence of four Mendelian disorders associated with autism in 2392 affected familiesAvi Saskin, Vanessa Fulginiti, Ashley H Birch, et al.Journal of Human Genetics|June 5, 2008
Adiponectin gene ADIPOQ SNP associations with serum adiponectin in two female populations and effects of SNPs on promoter activityTheodosios Kyriakou, Laura J Collins, Nicola J Spencer-Jones, et al.Journal of Human Genetics|September 5, 2019
Expanding the clinical and molecular spectrum of the CWC27-related spliceosomopathyAlejandro J Brea-Fernández, Paloma Cabanas, David Dacruz-Álvarez, et al.Journal of Human Genetics|August 8, 2019
A novel compound heterozygous mutation in AARS2 gene (c.965 G > A, p.R322H; c.334 G > C, p.G112R) identified in a Chinese patient with leukodystrophy involved in brain and spinal cordChengyuan Song, Linliu Peng, Shengjun Wang, et al.Pageof 353