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Journal of Human Genetics|March 18, 2011
Analysis of CYP3A4 genetic polymorphisms in Han ChineseQing Zhou, Xiaomin Yu, Chang Shu, et al.Journal of Human Genetics|March 18, 2011
A founder mutation of CANT1 common in Korean and Japanese Desbuquois dysplasiaJin Dai, Ok-Hwa Kim, Tae-Joon Cho, et al.Journal of Human Genetics|April 8, 2011
Biochemical and structural study on a S529V mutant acid α-glucosidase responsive to pharmacological chaperonesYouichi Tajima, Seiji Saito, Kazuki Ohno, et al.Journal of Human Genetics|March 26, 2021
Homozygous TFG gene variants expanding the mutational and clinical spectrum of hereditary spastic paraplegia 57 and a review of literatureMehdi Khorrami, Mohammad Amin Tabatabaiefar, Erfan Khorram, et al.Journal of Human Genetics|April 22, 2024
Mediation role of DNA methylation in association between handgrip strength and cognitive function in monozygotic twinsJin Liu, Weijing Wang, Jia Luo, et al.Journal of Human Genetics|April 17, 2024
Exploring inheritance, and clinical penetrance of distal Xq28 duplication syndrome: insights from 47 new unpublished casesMichal Levy, Eyal Elron, Mordechai Shohat, et al.Journal of Human Genetics|July 11, 2014
A new acro-osteolysis syndrome caused by duplications including PTHLHMary J Gray, Margriet van Kogelenberg, Rachel Beddow, et al.Journal of Human Genetics|July 11, 2014
New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapyRosário Santos, Ana Gonçalves, Jorge Oliveira, et al.Journal of Human Genetics|July 11, 2014
Biosynthetic and functional defects in newly identified SLC4A11 mutants and absence of COL8A2 mutations in Fuchs endothelial corneal dystrophyNagasamy Soumittra, Sampath K Loganathan, Dharanija Madhavan, et al.Journal of Human Genetics|September 5, 2014
GST Theta null genotype is associated with an increased risk for ulcerative colitis: a case-control study and meta-analysis of GST Mu and GST Theta polymorphisms in inflammatory bowel diseaseMark M T J Broekman, Caro Bos, René H M Te Morsche, et al.Pageof 353