CORC

在结果中检索

CORC

浏览/检索结果: 共25条，第1-10条 帮助

已选(0)清除 条数/页：   排序方式：
Mutations of ARX and non-syndromic intellectual disability in Chinese population. 期刊论文
Genes & genomics, 2019, 卷号: 41, 页码: 125-131
作者:  Wu Yufei;  Zhang Huan;  Liu Xiaofen;  Shi Zhangyan;  Li Hongling
收藏  |  浏览/下载：23/0  |  提交时间：2019/11/19
Compound heterozygous mutations in PARK2 causing early-onset Parkinson disease A case report 期刊论文
MEDICINE, 2019, 卷号: 98, 期号: 5
作者:  Fang, Yu-Qing;  Mao, Fei;  Zhu, Mei-Jia;  Li, Xiu-Hua
收藏  |  浏览/下载：3/0  |  提交时间：2019/12/11
Whole-Exome Sequencing Analysis Identified Novel Mutations in the TSPAN12 Gene in Chinese Families with Familial Exudative Vitreoretinopathy 期刊论文
GENETIC TESTING AND MOLECULAR BIOMARKERS, 2019, 卷号: 23, 期号: 10, 页码: 722-727
作者:  Yuan, Ye
收藏  |  浏览/下载：9/0  |  提交时间：2021/10/27
Identification of LBX2 as a novel causal gene of atrial septal defect 期刊论文
INTERNATIONAL JOURNAL OF CARDIOLOGY, 2018, 卷号: 265, 期号: 1, 页码: 188-194
作者:  Wang, Jing;  Luo, Jing;  Chenc, Qiuhong;  Wang, Xi;  He, Jiangyan
收藏  |  浏览/下载：52/0  |  提交时间：2019/07/03
Targeted Next-Generation Sequencing Reveals a Novel Frameshift Mutation in the MERTK Gene in a Chinese Family with Retinitis Pigmentosa 期刊论文
GENETIC TESTING AND MOLECULAR BIOMARKERS, 2018, 卷号: 22, 期号: 3, 页码: 165-169
作者:  Yang, Mu;  Li, Shujin;  Liu, Wenjing;  Yang, Yeming;  Zhang, Lin
收藏  |  浏览/下载：20/0  |  提交时间：2020/12/24
一种新型的KCND3突变与中国汉族人群早发孤立性房颤的关联 学位论文
2017, 2016
隗楷桢
收藏  |  浏览/下载：5/0  |  提交时间：2017/06/20
A novel pathogenic splice acceptor site germline mutation in intron 14 of the APC gene in a Chinese family with familial adenomatous polyposis. 期刊论文
ONCOTARGET, 2017
作者:  Wang, Dan;  Liang, Shengyun;  Zhang, Xipeng;  Zhang, Zhao;  Zhao, Guoru
收藏  |  浏览/下载：34/0  |  提交时间：2018/02/02
New ABCG2 homology model reveals importance of C-terminus in protein trafficking 期刊论文
FASEB JOURNAL, 2017
作者:  Owen M. Woodward;  Jinming Cui;  Hiba Sayed;  Jonathan Huang
收藏  |  浏览/下载：21/0  |  提交时间：2018/02/02
Identification of a disease-causing mutation in a Chinese patient with retinitis pigmentosa by targeted next-generation sequencing 期刊论文
EUROPEAN JOURNAL OF OPHTHALMOLOGY, 2017, 卷号: 27, 期号: 6
作者:  Xiao, Jianping;  Guo, Xueqin;  Wang, Yong;  Shao, Mingkun;  Wei, Xiaoming
收藏  |  浏览/下载：17/0  |  提交时间：2019/12/04
Accurately annotate compound effects of genetic variants using a context-sensitive framework 期刊论文
NUCLEIC ACIDS RESEARCH, 2017
Cheng, Si-Jin; Shi, Fang-Yuan; Liu, Huan; Ding, Yang; Jiang, Shuai; Liang, Nan; Gao, Ge
收藏  |  浏览/下载：3/0  |  提交时间：2017/12/03

©版权所有 ©2017 CSpace - Powered by CSpace