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CORC

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Clinical and genetic analysis of patients with primary ciliary dyskinesia caused by novel DNAAF3 mutations 期刊论文
JOURNAL OF HUMAN GENETICS, 2019, 卷号: 64, 期号: 8
作者:  Guo, Zhuoyao;  Qian, Liling;  Wang, Libo;  Huang, Jianfeng;  Chen, Weicheng
收藏  |  浏览/下载：3/0  |  提交时间：2019/12/05
Novel mutations in ZP1, ZP2, and ZP3 cause female infertility due to abnormal zona pellucida formation 期刊论文
HUMAN GENETICS, 2019, 卷号: 138, 期号: 4
作者:  Sang, Qing;  Wang, Lei;  Fu, Jing;  Wang, Wenjing;  Zhao, Lin
收藏  |  浏览/下载：27/0  |  提交时间：2019/12/05
Whole-exome sequencing reveals SALL4 variants in premature ovarian insufficiency: an update on genotype-phenotype correlations 期刊论文
HUMAN GENETICS, 2019, 卷号: 138, 期号: 1
作者:  Wang, Xiuxia;  Wang, Qiqi;  Li, Da;  Cai, Baozhu;  Chen, Qing
收藏  |  浏览/下载：25/0  |  提交时间：2019/12/05
SMAD4 rare variants in individuals and families with thoracic aortic aneurysms and dissections 期刊论文
EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 卷号: 27, 期号: 7
作者:  Duan, Xue-Yan;  Guo, Dong-chuan;  Regalado, Ellen S.;  Shen, Hong;  Coselli, Joseph S.
收藏  |  浏览/下载：7/0  |  提交时间：2019/12/05
GNE myopathy in Chinese population: hotspot and novel mutations (vol 64, pg 11, 2018) 期刊论文
JOURNAL OF HUMAN GENETICS, 2019, 卷号: 64, 期号: 3
作者:  Chen, Yang;  Xi, Jianying;  Zhu, Wenhua;  Lin, Jie;  Luo, Sushan
收藏  |  浏览/下载：25/0  |  提交时间：2019/12/05
GNE myopathy in Chinese population: hotspot and novel mutations 期刊论文
JOURNAL OF HUMAN GENETICS, 2019, 卷号: 64, 期号: 1
作者:  Chen, Yang;  Xi, Jianying;  Zhu, Wenhua;  Li, Jie;  Luo, Sushan
收藏  |  浏览/下载：27/0  |  提交时间：2019/12/05
Autonomous decision-making for antenatal screening in Pakistan: views held by women, men and health professionals in a low-middle income country 期刊论文
EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 卷号: 27, 期号: 6
作者:  Ahmed, Shenaz;  Jafri, Hussain;  Rashid, Yasmin;  Yi, Huso;  Dong, Dong
收藏  |  浏览/下载：6/0  |  提交时间：2019/12/05
Novel mutations of AXIN2 identified in a Chinese Congenital Heart Disease Cohort 期刊论文
JOURNAL OF HUMAN GENETICS, 2019, 卷号: 64, 期号: 5
作者:  Ma, Xiao-Yun;  Ding, Pei-Cheng;  Tang, Han-Fei;  Peng, Rui;  Lu, Lei
收藏  |  浏览/下载：23/0  |  提交时间：2019/12/05
Novel mutations in PATL2: expanding the mutational spectrum and corresponding phenotypic variability associated with female infertility 期刊论文
JOURNAL OF HUMAN GENETICS, 2019, 卷号: 64, 期号: 5
作者:  Wang, Lei;  Kuang, Yanping;  Li, Bin;  Sang, Qing;  Wu, Ling
收藏  |  浏览/下载：24/0  |  提交时间：2019/12/05
Bi-allelic Mutations in ARMC2 Lead to Severe Astheno-Teratozoospermia Due to Sperm Flagellum Malformations in Humans and Mice 期刊论文
AMERICAN JOURNAL OF HUMAN GENETICS, 2019, 卷号: 104, 期号: 2
作者:  Coutton, Charles;  Martinez, Guillaume;  Kherraf, Zine-Eddine;  Amiri-Yekta, Amir;  Boguenet, Magalie
收藏  |  浏览/下载：8/0  |  提交时间：2019/12/05

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