CORC

在结果中检索

CORC

浏览/检索结果: 共18条，第1-10条 帮助

限定条件                
已选(0)清除 条数/页：   排序方式：
PHENOTYPIC VARIABILITY OF RECESSIVE RDH12-ASSOCIATED RETINAL DYSTROPHY 期刊论文
2019, 卷号: 39, 期号: 10, 页码: 2040-2052
作者:  Zou Xuan;  Fu Qing;  Fang Sha;  Li Hui;  Ge Zhongqi
收藏  |  浏览/下载：4/0  |  提交时间：2020/01/03
Multi-region sequencing unveils novel actionable targets and spatial heterogeneity in esophageal squamous cell carcinoma 期刊论文
2019, 卷号: 10
作者:  Yan, Ting;  Cui, Heyang;  Zhou, Yong;  Yang, Bin;  Kong, Pengzhou
收藏  |  浏览/下载：38/0  |  提交时间：2020/01/03
Ocular Features in Chinese Patients with Blau Syndrome 期刊论文
2019, 页码: 1-7
作者:  Wu Shijing;  Zhong Linqing;  Sun Zixi;  Zhu Tian;  Song Hongmei
收藏  |  浏览/下载：7/0  |  提交时间：2020/01/03
Whole-exome sequencing revealed HKDC1 as a candidate gene associated with autosomal-recessive retinitis pigmentosa 期刊论文
2018, 卷号: 27, 期号: 23, 页码: 4157-4168
作者:  Zhang, Lin;  Sun, Zixi;  Zhao, Peiquan;  Huang, Lulin;  Xu, Mingchu
收藏  |  浏览/下载：7/0  |  提交时间：2020/01/03
Clinical and genetic features of eight Chinese autosomal-dominant optic atrophy pedigrees with six novel OPA1 pathogenic variants 期刊论文
2018, 卷号: 39, 期号: 5, 页码: 569-576
作者:  Li, Huajin;  Jones, Evan M.;  Li, Hui;  Yang, Lizhu;  Sun, Zixi
收藏  |  浏览/下载：8/0  |  提交时间：2020/01/03
ADOA  hearing loss  NGS  OPA1  
A novel small deletion in the NHS gene associated with Nance-Horan syndrome 期刊论文
2018, 卷号: 8, 期号: 1, 页码: 2398
作者:  Li, Huajin;  Yang, Lizhu;  Sun, Zixi;  Yuan, Zhisheng;  Wu, Shijing
收藏  |  浏览/下载：2/0  |  提交时间：2020/01/03
Molecular genetic and clinical evaluation of three Chinese families with X-linked ocular albinism 期刊论文
2017, 卷号: 7, 页码: 33713
作者:  Zou, Xuan;  Li, Hui;  Yang, Lizhu;  Sun, Zixi;  Yuan, Zhisheng
收藏  |  浏览/下载：1/0  |  提交时间：2020/01/04
Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies 期刊论文
2017, 卷号: 100, 期号: 4, 页码: 592-604
作者:  Xu, Mingchu;  Xie, Yajing;  Abouzeid, Hana;  Gordon, Christopher T.;  Fiorentino, Alessia
收藏  |  浏览/下载：15/0  |  提交时间：2020/01/04
CEP78 is mutated in a distinct type of Usher syndrome 期刊论文
2017, 卷号: 54, 期号: 3, 页码: 190-195
作者:  Fu, Qing;  Xu, Mingchu;  Chen, Xue;  Sheng, Xunlun;  Yuan, Zhisheng
收藏  |  浏览/下载：4/0  |  提交时间：2020/01/04
IFT81 as a Candidate Gene for Nonsyndromic Retinal Degeneration 期刊论文
2017, 卷号: 58, 期号: 5, 页码: 3483-3490
作者:  Dharmat Rachayata;  Liu Wei;  Ge Zhongqi;  Sun Zixi;  Yang Lizhu
收藏  |  浏览/下载：2/0  |  提交时间：2020/01/04

©版权所有 ©2017 CSpace - Powered by CSpace