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Journal of Human Genetics|September 8, 2017
The pharmacogenomics of valproic acidMiao-Miao Zhu, Hui-Lan Li, Li-Hong Shi, et al.Journal of Human Genetics|March 18, 2016
Spectrum of AGL mutations in Chinese patients with glycogen storage disease type III: identification of 31 novel mutationsChaoxia Lu, Zhengqing Qiu, Miao Sun, et al.Journal of Human Genetics|December 4, 2015
An epigenomic signature of postprandial hyperglycemia in peripheral blood leukocytesSung-Mi Shim, Yoon-Kyung Cho, Eun-Jung Hong, et al.Journal of Human Genetics|December 4, 2015
The African-387 C>T TGFB1 variant is functional and associates with the ophthalmoplegic complication in juvenile myasthenia gravisMelissa Nel, Joy-Mari Buys, Robyn Rautenbach, et al.Journal of Human Genetics|October 26, 2017
The role of READ1 and KIAA0319 genetic variations in developmental dyslexia: testing main and interactive effectsVittoria Trezzi, Diego Forni, Roberto Giorda, et al.Journal of Human Genetics|September 15, 2017
Skewed X inactivation in Lesch-Nyhan disease carrier femalesRosa J Torres, Juan G PuigJournal of Human Genetics|September 28, 2019
Long-read sequencing for rare human genetic diseasesSatomi Mitsuhashi, Naomichi MatsumotoJournal of Human Genetics|September 28, 2019
Association between BHMT and CBS gene promoter methylation with the efficacy of folic acid therapy in patients with hyperhomocysteinemiaXiaowen Huang, Dankang Li, Qinglin Zhao, et al.Journal of Human Genetics|January 27, 2017
New diagnosis of atypical ataxia-telangiectasia in a 17-year-old boy with T-cell acute lymphoblastic leukemia and a novel ATM mutationJasmin Roohi, Jennifer Crowe, Denis Loredan, et al.Journal of Human Genetics|October 7, 2016
INPPL1 gene mutations in opsismodysplasiaAnaïs Fradet, Jamie FitzgeraldPageof 353