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浏览/检索结果: 共4条，第1-4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 A comprehensive genetic diagnosis of Chinese muscular dystrophy and congenital myopathy patients by targeted next-generation sequencing 期刊论文 2015, 卷号: 25, 期号: 8, 页码: 617-624 作者:  Dai, Yi;  Wei, Xiaoming;  Zhao, Yanhuan;  Ren, Haitao;  Lan, Zhangzhang 收藏  |  浏览/下载：3/0  |  提交时间：2020/01/13 Muscular dystrophy  Congenital myopathy  Targeted next-generation sequencing  Prospective diagnostic study  Chinese patients' features   Targeted next-generation sequencing as a comprehensive test for patients with and female carriers of DMD/BMD: a multi-population diagnostic study 期刊论文 European Journal of Human Genetics, 2014, 卷号: 22, 期号: 1, 页码: 110-118 作者:  Wei, Xiaoming;  Dai, Yi;  Yu, Ping;  Qu, Ning;  Lan, Zhangzhang 收藏  |  浏览/下载：15/0  |  提交时间：2019/12/03 targeted NGS  genetic diagnosis  Duchenne and Becker muscular dystrophies  statistical analysis for CNVs  breakpoints   A novel mutation of the SLC25A13 gene in a Chinese patient with citrin deficiency detected by target next-generation sequencing 期刊论文 GENE, 2014, 卷号: 533, 页码: 547-553 作者:  Liu, Gang[1,2];  Wei, Xiaoming[2];  Chen, Rui[1,2];  Zhou, Hanlin[2];  Li, Xiaoyan[2] 收藏  |  浏览/下载：4/0  |  提交时间：2019/04/25 Type II citrullinaemia  SLC25A13  Novel mutation  Target sequence capture  Next generation sequencing   Targeted next-generation sequencing as a comprehensive test for patients with and female carriers of DMD/BMD: a multi-population diagnostic study 期刊论文 2014, 卷号: 22, 期号: 1, 页码: 110-118 作者:  Wei, Xiaoming;  Dai, Yi;  Yu, Ping;  Qu, Ning;  Lan, Zhangzhang 收藏  |  浏览/下载：7/0  |  提交时间：2020/01/13 targeted NGS  genetic diagnosis  Duchenne and Becker muscular dystrophies  statistical analysis for CNVs  breakpoints