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Internal Medicine (Tokyo, Japan)|June 21, 2021
Novel Mutations of the ALMS1 Gene in Patients with Alström SyndromeChunmei Wang, Xiaona Luo, Yilin Wang, et al.Stem Cell Research|December 30, 2021
Generation of an induced pluripotent stem cell line from an Ohtahara syndrome patient with the hemizygous mutation p.Q503Afs*28 (c.1507_1508del) in the ARX geneChunmei Wang, Yilin Wang, Wuhen Xu, et al.Stem Cell Research|May 10, 2022
Induced pluripotent stem cells (SHCDNi006-A cells) isolated from the peripheral blood mononuclear cells of a five-month-old Chinese girl with the heterozygous missense mutation (c.2800 G>A) in the KCNT1 geneXiaona Luo, Yilin Wang, Fang Yuan, et al.Frontiers in Genetics|December 26, 2022
Segawa syndrome caused by <i>TH</i> gene mutation and its mechanismYilin Wang, Chunmei Wang, Meiyan Liu, et al.Epilepsia|March 14, 2026
KCNJ4 variants disrupt inward-rectifier potassium channel function and cause refractory epilepsyHu Pan, Deng Liu, Wuhen Xu, et al.Pageof 3