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Clinical Genetics|January 8, 2020
A splice site mutation c.1251G>A of ISPD gene is a common cause of congenital muscular dystrophy in Chinese patientsDanyu Song, Xiaona Fu, Lin Ge, et al.Neuroscience Letters|October 18, 2002
Mutation screen of the GABA(A) receptor gamma 2 subunit gene in Chinese patients with childhood absence epilepsyJianjun Lu, Yucai Chen, Yuehua Zhang, et al.Plos One|November 7, 2015
Gene Mutation Analysis in 253 Chinese Children with Unexplained Epilepsy and Intellectual/Developmental DisabilitiesYujia Zhang, Weijing Kong, Yang Gao, et al.Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|February 8, 2007
[Prenatal diagnosis of X-linked adrenoleukodystrophy]Xin-hua Bao, Li-li Ping, Ai-hua Wang, et al.Journal of Human Genetics|May 20, 2016
Analysis of phenotype, enzyme activity and genotype of Chinese patients with POMT1 mutationHaipo Yang, Hiroshi Manya, Kazuhiro Kobayashi, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 21, 2019
Correction: Genomic mosaicism in the pathogenesis and inheritance of a Rett syndrome cohortQingping Zhang, Xiaoxu Yang, Jiaping Wang, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 9, 2018
Genomic mosaicism in the pathogenesis and inheritance of a Rett syndrome cohortQingping Zhang, Xiaoxu Yang, Jiaping Wang, et al.Plos One|June 21, 2016
Ten Novel Mutations in Chinese Patients with Megalencephalic Leukoencephalopathy with Subcortical Cysts and a Long-Term Follow-Up ResearchBinbin Cao, Huifang Yan, Mangmang Guo, et al.Scientific Reports|November 17, 2017
Genomic mosaicism in paternal sperm and multiple parental tissues in a Dravet syndrome cohortXiaoxu Yang, Aijie Liu, Xiaojing Xu, et al.Brain & Development|October 31, 2013
Early clinical features and diagnosis of Dravet syndrome in 138 Chinese patients with SCN1A mutationsXiaojing Xu, Yuehua Zhang, Huihui Sun, et al.Pageof 12