CORC

在结果中检索

CORC

浏览/检索结果: 共11条，第1-10条 帮助

限定条件                
已选(0)清除 条数/页：   排序方式：
TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model 期刊论文
GENETICS IN MEDICINE, 2019, 卷号: 21, 期号: 7
作者:  Liu, Jiaqi;  Wu, Nan;  Yang, Nan;  Takeda, Kazuki;  Chen, Weisheng
收藏  |  浏览/下载：63/0  |  提交时间：2019/12/05
Co-Existence of Novel PDE6A Mutations and A Recurrent RPGR Mutation: A Potential Explanation for Phenotypic Diversity in Female RPGR Mutation Carriers 期刊论文
CURRENT MOLECULAR MEDICINE, 2018, 卷号: 18, 期号: 5
作者:  Chen, X.;  Sheng, X.;  Liu, G.;  Liu, Y.;  Li, H.
收藏  |  浏览/下载：7/0  |  提交时间：2019/12/05
Roles of Meiotic Defects in Pathogenesis of Primary Ovarian Insufficiency 期刊论文
生殖与发展医学, 2017, 卷号: 1, 期号: 3
作者:  Zhang Ling;  Wang Qiqi;  Tao Chengqiu;  Xu Congjian
收藏  |  浏览/下载：11/0  |  提交时间：2019/12/05
Roles of Meiotic Defects in Pathogenesis of Primary Ovarian Insufficiency 期刊论文
REPRODUCTIVE AND DEVELOPMENTAL MEDICINE, 2017, 卷号: 1, 期号: 3
作者:  Zhang, Ling;  Wang, Qi-Qi;  Tao, Cheng-Qiu;  Xu, Cong-Jian
收藏  |  浏览/下载：2/0  |  提交时间：2019/12/05
Molecular etiology and genotype-phenotype correlation of Chinese Han deaf patients with type I and type II Waardenburg Syndrome 期刊论文
SCIENTIFIC REPORTS, 2016, 卷号: 6
作者:  Sun, Lianhua;  Li, Xiaohua;  Shi, Jun;  Pang, Xiuhong;  Hu, Yechen
收藏  |  浏览/下载：7/0  |  提交时间：2019/12/05
Von Hippel-Lindau disease type 2 in a Chinese family with a VHL p.W88X truncation 期刊论文
ENDOCRINE, 2015, 卷号: 48, 期号: 1
作者:  
收藏  |  浏览/下载：2/0  |  提交时间：2019/12/13
Genotype-Phenotype Correlation in Chinese Patients with Spinal and Bulbar Muscular Atrophy 期刊论文
PLOS ONE, 2015, 卷号: 10, 期号: 3
作者:  Ni, Wang;  Chen, Sheng;  Qiao, Kai;  Wang, Ning;  Wu, Zhi-Ying
收藏  |  浏览/下载：4/0  |  提交时间：2019/12/19
Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements 期刊论文
HUMAN GENETICS, 2014, 卷号: 133, 期号: 3
作者:  Wang, Feng;  Wang, Hui;  Tuan, Han-Fang;  Nguyen, Duy H.;  Sun, Vincent
收藏  |  浏览/下载：6/0  |  提交时间：2019/12/19
Novel and known mutations of TGFBI, their genotype-phenotype correlation and structural modeling in 3 Chinese families with lattice corneal dystrophy 期刊论文
Molecular Vision, 2010, 卷号: 16
作者:  Zhong, Xingwu/7202160521[0];  Chen, Suqin/13907637100[1];  Huang, Weijun/55709643800[2];  Yang, Jun/57029477800[3];  Chen, Xiaolian/8394238300[4]
收藏  |  浏览/下载：4/0  |  提交时间：2019/12/19
Novel and known mutations of TGFBI, their genotype-phenotype correlation and structural modeling in 3 Chinese families with lattice corneal dystrophy 期刊论文
MOLECULAR VISION, 2010, 卷号: 16, 期号: 28
作者:  Zhong, Xingwu;  Chen, Suqin;  Huang, Weijun;  Yang, Jun;  Chen, Xiaolian
收藏  |  浏览/下载：2/0  |  提交时间：2019/12/19

©版权所有 ©2017 CSpace - Powered by CSpace