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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 Identification of novel variants in MYO15A, OTOF, and RDX with hearing loss by next-generation sequencing 期刊论文 MOLECULAR GENETICS & GENOMIC MEDICINE, 2019, 卷号: 7, 期号: 8 作者:  Bai, Xuejing;  Nian, Shiyan;  Feng, Lei;  Ruan, Qingrong;  Luo, Xuan 收藏  |  浏览/下载：20/0  |  提交时间：2019/12/04 MYO15A  next-generation sequencing  nonsyndromic hearing loss  OTOF  RDX   Three MYO15A mutations identified in one Chinese family with autosomal recessive nonsyndromic hearing loss 期刊论文 Neural Plasticity, 2018, 卷号: 2018 作者:  Zhang F.;  Xu L.;  Xiao Y.;  Li J.;  Bai X. 收藏  |  浏览/下载：5/0  |  提交时间：2019/12/11 A novel nonsense mutation in MYO15A is associated with non-syndromic hearing loss: a case report 期刊论文 2018, 卷号: 19 作者:  Ma, Di[1];  Shen, Shanshan[1];  Gao, Hui[1];  Guo, Hui[1];  Lin, Yumei[1] 收藏  |  浏览/下载：7/0  |  提交时间：2019/12/23 A novel recessive truncating mutation in MYO15A causing prelingual sensorineural hearing loss 期刊论文 INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, 2016, 卷号: 81, 期号: 2 作者:  Li, Wei;  Guo, Luo;  Li, Yu;  Wu, Qianru;  Li, Qingzhong 收藏  |  浏览/下载：3/0  |  提交时间：2019/12/06 MYO15A  Exon 2  Hearing loss   Novel compound heterozygous mutations in the MYO15A gene in autosomal recessive hearing loss identified by whole-exome sequencing 期刊论文 JOURNAL OF TRANSLATIONAL MEDICINE, 2013, 卷号: 11 作者:  Gao, Xue;  Zhu, Qing-yan;  Song, Yue-Shuai;  Wang, Guo-Jian;  Yuan, Yong-Yi 收藏  |  浏览/下载：3/0  |  提交时间：2019/12/19 Autosomal recessive sensorineural hearing loss  Whole-exome sequencing  MYO15A