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浏览/检索结果: 共7条，第1-7条 帮助 已选(0)清除 条数/页：5101520253035404550556065707580859095100   排序方式：请选择作者升序作者降序题名升序题名降序发表日期升序发表日期降序提交时间升序提交时间降序 Congenital disorder of glycosylation type 1T with a novel truncated homozygous mutation in PGM1 gene and literature review. 期刊论文 Neuromuscular disorders : NMD, 2019, 卷号: 29, 期号: 4 作者:  Tian Wo-Tu;  Luan Xing-Hua;  Zhou Hai-Yan;  Zhang Chao;  Huang Xiao-Jun 收藏  |  浏览/下载：4/0  |  提交时间：2019/12/06 Congenital disorder of glycosylation  Glycogen storage disease  PGM1  Whole exome sequencing   Novel Mutations in SCN4A Gene Cause Myotonia Congenita with Scoliosis 期刊论文 CHINESE MEDICAL JOURNAL, 2018, 卷号: 131, 期号: 4 作者:  Xu, Yang-Qi;  Liu, Xiao-Li;  Huang, Xiao-Jun;  Tian, Wo-Tu;  Tang, Hui-Dong 收藏  |  浏览/下载：9/0  |  提交时间：2019/12/06 The study of exercise tests in paroxysmal kinesigenic dyskinesia. 期刊论文 Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology, 2018, 卷号: 129, 期号: 11 作者:  Zhou Hai-Yan;  Zhan Fei-Xia;  Tian Wo-Tu;  Zhang Chao;  Wang Yan 收藏  |  浏览/下载：14/0  |  提交时间：2019/12/06 Compound muscle action potential  Hypokalaemic periodic paralysis  Long exercise test  Paroxysmal kinesigenic dyskinesia  Proline-rich transmembrane protein 2  Short exercise test   Progressive myoclonus epilepsy without renal failure in a Chinese family with a novel mutation in SCARB2 gene and literature 期刊论文 SEIZURE-EUROPEAN JOURNAL OF EPILEPSY, 2018, 卷号: 57 作者:  Tian, Wo-Tu;  Liu, Xiao-Li;  Xu, Yang-Qi;  Huang, Xiao-Jun;  Zhou, Hai-Yan 收藏  |  浏览/下载：4/0  |  提交时间：2019/12/06 Proline-Rich Transmembrane Protein 2-Negative Paroxysmal Kinesigenic Dyskinesia: Clinical and Genetic Analyses of 163 Patients 期刊论文 2018, 卷号: 33, 期号: 3, 页码: 459-467 作者:  Tian, Wo-Tu;  Huang, Xiao-Jun;  Mao, Xiao;  Liu, Qing;  Liu, Xiao-Li 收藏  |  浏览/下载：4/0  |  提交时间：2020/01/03 paroxysmal kinesigenic dyskinesia (PKD)  genotype  phenotype  clinical exome sequencing   Familial paroxysmal kinesigenic dyskinesia is associated with mutations in the KCNA1 gene 期刊论文 Human Molecular Genetics, 2018, 卷号: 27, 期号: 4, 页码: 625-637 作者:  Yin, Xiao-Meng;  Lin, Jing-Han;  Cao, Li;  Zhang, Tong-Mei;  Zeng, Sheng 收藏  |  浏览/下载：9/0  |  提交时间：2019/12/27 multicatalytic endopeptidase complex