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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 Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants among exon-captured variants of uncertain significance 期刊论文 2017, 卷号: 38, 期号: 11, 页码: 1521-1533 作者:  Soens, Zachry T.;  Branch, Justin;  Wu, Shijing;  Yuan, Zhisheng;  Li, Yumei 收藏  |  浏览/下载：9/0  |  提交时间：2020/01/03 inherited retinal degenerations  minigene  Mendelian disease  molecular diagnosis  noncanonical splicing variants  variants of uncertain significance (VUS)   Validating splice altering 'variants of uncertain significance' in genetically unsolved Leber congenital amaurosis patients using the RHCglo minigene 期刊论文 2017, 卷号: 58, 期号: 8 作者:  Branch, Justin;  Soens, Zachary;  Li, Yumei;  Wang, Keqing;  Xu, Mingchu 收藏  |  浏览/下载：10/0  |  提交时间：2020/01/04 Validating splice altering 'variants of uncertain significance' in genetically unsolved Leber congenital amaurosis patients using the RHCglo minigene 会议论文 INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2017-06-01 作者:  Branch, Justin;  Soens, Zachary;  Li, Yumei;  Wang, Keqing;  Xu, Mingchu 收藏  |  浏览/下载：3/0  |  提交时间：2020/01/04 Oral 9-cis retinoid for childhood blindness due to Leber congenital amaurosis caused by RPE65 or LRAT mutations: an open-label phase 1b trial 期刊论文 2014, 卷号: 384, 期号: 9953, 页码: 1513-20 作者:  Koenekoop Robert K;  Sui Ruifang;  Sallum Juliana;  van den Born L Ingeborgh;  Ajlan Radwan 收藏  |  浏览/下载：3/0  |  提交时间：2020/01/13