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CORC

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Steroid metabolism gene variants and their genotype-phenotype correlations in Chinese early-onset hypertension patients 期刊论文
2019, 卷号: 42, 期号: 10, 页码: 1536-1543
作者:  Qin Fang;  Liu Kai;  Zhang Ce;  Sun Xiaolu;  Zhang Yang
收藏  |  浏览/下载：52/0  |  提交时间：2020/01/03
TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance disease 期刊论文
2019
作者:  Chen Weisheng;  Lin Jiachen;  Wang Lianlei;  Li Xiaoxin;  Zhao Sen
收藏  |  浏览/下载：32/0  |  提交时间：2020/01/03
Clinical and genetic analysis in a large Chinese cohort of patients with X-linked hypophosphatemia 期刊论文
2019, 卷号: 121, 页码: 212-220
作者:  Zhang, Cong;  Zhao, Zhen;  Sun, Yue;  Xu, Lijun;  JiaJue, Ruizhi
收藏  |  浏览/下载：11/0  |  提交时间：2020/01/03
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
2019, 卷号: 21, 期号: 7, 页码: 1548-1558
作者:  Liu, Jiaqi;  Wu, Nan;  Yang, Nan;  Takeda, Kazuki;  Chen, Weisheng
收藏  |  浏览/下载：34/0  |  提交时间：2020/01/03
A novel genotype-based clinicopathology classification of arrhythmogenic cardiomyopathy provides novel insights into disease progression 期刊论文
2019, 卷号: 40, 期号: 21, 页码: 1690-1703
作者:  Chen Liang;  Song Jiangping;  Chen Xiao;  Chen Kai;  Ren Jie
收藏  |  浏览/下载：3/0  |  提交时间：2020/01/03
Genotype-phenotype correlation of patients with tuberous sclerosis complex-associated renal angiomyolipoma: a descriptive study 期刊论文
2018, 卷号: 82, 页码: 61-67
作者:  Li, Shuqiang;  Zhang, Yushi;  Wang, Zhiyong;  Yang, Yanfeng;  Gao, Wansheng
收藏  |  浏览/下载：4/0  |  提交时间：2020/01/03
Genetic basis of index patients with familial hypercholesterolemia in Chinese population: mutation spectrum and genotype-phenotype correlation 期刊论文
2018, 卷号: 72, 期号: 16, 页码: C225-C226
作者:  Sun Di;  Zhou Bing-Yang;  Li Sha;  Sun Ning-Ling;  Hua Qi
收藏  |  浏览/下载：4/0  |  提交时间：2020/01/03
Genetic basis of index patients with familial hypercholesterolemia in Chinese population: mutation spectrum and genotype-phenotype correlation 会议论文
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 2018-10-16
作者:  Sun, Di;  Zhou, Bingyang;  Li, Sha;  Guo, Yuanlin;  Wu, Naqiong
收藏  |  浏览/下载：25/0  |  提交时间：2020/01/03
Genetic analyses in a cohort of 191 pulmonary arterial hypertension patients 期刊论文
2018, 卷号: 19, 期号: 1, 页码: 87
作者:  Yang, Hang;  Zeng, Qixian;  Ma, Yanyun;  Liu, Bingyang;  Chen, Qianlong
收藏  |  浏览/下载：25/0  |  提交时间：2020/01/03
Gene mutation spectrum and genotype-phenotype correlation in a cohort of Chinese osteogenesis imperfecta patients revealed by targeted next generation sequencing (vol 28, pg 2985, 2017) 期刊论文
2018, 卷号: 29, 期号: 1, 页码: 261-261
作者:  Liu, Y.;  Asan;  Ma, D.;  Lv, F.;  Xu, X.
收藏  |  浏览/下载：3/0  |  提交时间：2020/01/03

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