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浏览/检索结果: 共6条，第1-6条 帮助 限定条件 发表日期：2017     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 Identification of a novel CACNAIA mutation in a Chinese family with autosomal recessive progressive myoclonic epilepsy 期刊论文 NEUROPSYCHIATRIC DISEASE AND TREATMENT, 2017, 卷号: 13 作者:  Wang, Zan;  Lv, Yudan;  Liu, Chang;  Cui, Li 收藏  |  浏览/下载：3/0  |  提交时间：2019/12/05 CACNA1A  PME  exome sequencing  myoclonus  muscular hypotonia   Compound heterozygous mutations in electron transfer flavoprotein dehydrogenase identified in a young Chinese woman with late-onset glutaric aciduria type II 期刊论文 LIPIDS IN HEALTH AND DISEASE, 2017, 卷号: 16 作者:  Xue, Ying;  Zhou, Yun;  Zhang, Keqin;  Li, Ling;  Kayoumu, Abudurexiti 收藏  |  浏览/下载：3/0  |  提交时间：2019/12/05 Glutaric aciduria type II (GA II)  Electron transfer flavoprotein dehydrogenase (ETFDH)  Autosomal recessive disorder   New role of LRP5, associated with nonsyndromic autosomal-recessive hereditary hearing loss 期刊论文 HUMAN MUTATION, 2017, 卷号: 38, 期号: 10 作者:  Xia, Wenjun;  Hu, Jiongjiong;  Liu, Fei;  Ma, Jing;  Sun, Shaoyang 收藏  |  浏览/下载：5/0  |  提交时间：2019/12/05 hereditary hearing loss  LRP5  nonsyndromic hearing loss  Wnt signaling pathway   Compound heterozygous POMT1 mutations in a Chinese family with autosomal recessive muscular dystrophy‐dystroglycanopathy C1 期刊论文 Journal of Cellular and Molecular Medicine, 2017, 卷号: 21, 期号: 7, 页码: 1388-1393 作者:  Hu, Pengzhi;  Wu, Song;  Yuan, Lamei;  Lin, Qiongfen;  Zheng, Wen 收藏  |  浏览/下载：5/0  |  提交时间：2019/12/03 muscular dystrophy‐dystroglycanopathy  exome sequencing  POMT1 gene  mutation  genetic counselling   Purkinje Cell Degeneration and Motor Coordination Deficits in a New Mouse Model of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay 期刊论文 FRONTIERS IN MOLECULAR NEUROSCIENCE, 2017, 卷号: 10 作者:  Ding, Man;  Weng, Chao;  Fan, Shanghua;  Cao, Qian;  Lu, Zuneng 收藏  |  浏览/下载：3/0  |  提交时间：2019/12/05 Ankfy1  ARSACS  neurodegenerative disease  NTFs  behavior  apoptosis   Molecular analysis of 23 Pakistani families with autosomal recessive primary microcephaly using targeted next-generation sequencing 期刊论文 2017, 卷号: 62, 期号: 2, 页码: 299-304 作者:  Wang, Rongrong;  Khan, Amjad;  Han, Shirui;  Zhang, Xue 收藏  |  浏览/下载：1/0  |  提交时间：2020/01/04