QQ客服 官方微博 反馈留言

浏览/检索结果: 共8条，第1-8条 帮助 限定条件 发表日期：2016     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 Next-generation sequencing-based molecular diagnosis of 12 inherited retinal disease probands of Uyghur ethnicity 期刊论文 SCIENTIFIC REPORTS, 2016, 卷号: 6, 期号: 2 作者:  Tajiguli, A (Tajiguli, Abulikemu);  Xu, MC (Xu, Mingchu);  Fu, Q (Fu, Qing);  Yiming, R (Yiming, Rouzimaimaiti);  Wang, KQ (Wang, Keqing) 收藏  |  浏览/下载：60/0  |  提交时间：2016/03/10 Next-generation sequencing-based molecular diagnosis of 12 inherited retinal disease probands of Uyghur ethnicity 期刊论文 SCIENTIFIC REPORTS, 2016, 卷号: 6 作者:  Tajiguli, Abulikemu;  Xu, Mingchu;  Fu, Qing;  Yiming, Rouzimaimaiti;  Wang, Keqing 收藏  |  浏览/下载：6/0  |  提交时间：2019/12/05 Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa 期刊论文 2016, 卷号: 25, 期号: 8, 页码: 1479-1488 作者:  Xu, Mingchu;  Yamada, Takeyuki;  Sun, Zixi;  Eblimit, Aiden;  Lopez, Irma 收藏  |  浏览/下载：5/0  |  提交时间：2020/01/04 Next-generation sequencing-based molecular diagnosis of 12 inherited retinal disease probands of Uyghur ethnicity 期刊论文 2016, 卷号: 6, 页码: 21384 作者:  Tajiguli, Abulikemu;  Xu, Mingchu;  Fu, Qing;  Yiming, Rouzimaimaiti;  Wang, Keqing 收藏  |  浏览/下载：5/0  |  提交时间：2020/01/04 Beyond the Exon: Variants in regulatory and non-coding regions play a functional role in the pathogenesis of inherited retinal disease 会议论文 INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2016-09-01 作者:  Jones, Evan;  Branch, Justin;  Sui, Ruifang;  Koenekoop, Robert K.;  Ottoni Porto, Fernanda Belga 收藏  |  浏览/下载：2/0  |  提交时间：2020/01/04 Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination 期刊论文 2016, 卷号: 99, 期号: 2, 页码: 470-480 作者:  Coppieters, Frauke;  Ascari, Giulia;  Dannhausen, Katharina;  Nikopoulos, Konstantinos;  Peelman, Frank 收藏  |  浏览/下载：4/0  |  提交时间：2020/01/04 Improved Diagnosis of Inherited Retinal Dystrophies by High-Fidelity PCR of ORF15 followed by Next-Generation Sequencing 期刊论文 2016, 卷号: 18, 期号: 6, 页码: 817-824 作者:  Li, Jianli;  Tang, Jia;  Feng, Yanming;  Xu, Mingchu;  Chen, Rui 收藏  |  浏览/下载：2/0  |  提交时间：2020/01/04 Beyond the Exon: Variants in regulatory and non-coding regions play a functional role in the pathogenesis of inherited retinal disease 期刊论文 2016, 卷号: 57, 期号: 12 作者:  Jones, Evan;  Branch, Justin;  Sui, Ruifang;  Koenekoop, Robert K.;  Ottoni Porto, Fernanda Belga 收藏  |  浏览/下载：3/0  |  提交时间：2020/01/04