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浏览/检索结果: 共5条，第1-5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 GNE myopathy caused by a synonymous mutation leading to aberrant mRNA splicing 期刊论文 NEUROMUSCULAR DISORDERS, 2018, 卷号: 28, 期号: 2 作者:  Zhu, Wenhua;  Eto, Masaki;  Mitsuhashi, Satomi;  Takata, Kazushiro;  Beck, Goichi 收藏  |  浏览/下载：8/0  |  提交时间：2019/12/05 Distal myopathy with rimmed vacuoles  Hereditary inclusion body myopathy  RNA  Splice   Identification of the CFTR c.1666A>G Mutation in Hereditary Inclusion Body Myopathy Using Next-Generation Sequencing Analysis (vol 12, 329, 2018) 期刊论文 FRONTIERS IN NEUROSCIENCE, 2018, 卷号: 12 作者:  Lu, Yan;  Da, Yu-Wei;  Zhang, Yong-Biao;  Li, Xin-Gang;  Wang, Min 收藏  |  浏览/下载：6/0  |  提交时间：2019/12/30 hereditary inclusion body myopathy  next-generation sequencing  CFTR  mutation  whole-exome sequencing   Corrigendum: Identification of the CFTR c.1666A>G Mutation in Hereditary Inclusion Body Myopathy Using Next-Generation Sequencing Analysis 期刊论文 Frontiers in neuroscience, 2018, 卷号: 12, 页码: 570 作者:  Lu Yan;  Da Yu-Wei;  Zhang Yong-Biao;  Li Xin-Gang;  Wang Min 收藏  |  浏览/下载：7/0  |  提交时间：2019/12/30 CFTR  hereditary inclusion body myopathy  mutation  next-generation sequencing  whole-exome sequencing   Identification of the CFTR c.1666A>G Mutation in Hereditary Inclusion Body Myopathy Using Next-Generation Sequencing Analysis 期刊论文 FRONTIERS IN NEUROSCIENCE, 2018, 卷号: 12, 页码: 329 作者:  Lu, Yan;  Da, Yu-Wei;  Zhang, Yong-Biao;  Li, Xin-Gang;  Wang, Min 收藏  |  浏览/下载：5/0  |  提交时间：2019/12/30 hereditary inclusion body myopathy  next-generation sequencing  CFTR  mutation  whole-exome sequencing   Clinical and molecular genetic analysis in Chinese patients with distal myopathy with rimmed vacuoles. 期刊论文 Journal of human genetics, 2011, 卷号: 56, 期号: 4, 页码: 335-338 作者:  Li H;  Chen Q;  Liu F;  Zhang X;  Liu T 收藏  |  浏览/下载：3/0  |  提交时间：2019/12/23 Chinese  distal myopathy with rimmed vacuoles  GNE  hereditary inclusion  body myopathy