CORC

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CORC

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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：61/0  |  提交时间：2019/12/05
Genotype-phenotype correlation study and mutational and hormonal analysis in a Chinese cohort with 21-hydroxylase deficiency 期刊论文
MOLECULAR GENETICS & GENOMIC MEDICINE, 2019, 卷号: 7, 期号: 6
作者:  Xu, Chao;  Jia, Wenyu;  Cheng, Xiangdeng;  Ying, Hui;  Chen, Jing
收藏  |  浏览/下载：29/0  |  提交时间：2019/12/11
TBX6-associated congenital scoliosis 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 : official journal of the American College of Medical Genetics, 2019
作者:  Jiaqi Liu;  Nan Wu;  Nan Yang;  Kazuki Takeda;  Weisheng Chen
收藏  |  浏览/下载：45/0  |  提交时间：2019/12/13
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：33/0  |  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
Targeted Next-Generation Sequencing Reveals Novel RP1 Mutations in Autosomal Recessive Retinitis Pigmentosa 期刊论文
GENETIC TESTING AND MOLECULAR BIOMARKERS, 2018, 卷号: 22, 期号: 2, 页码: 109-114
作者:  Li, Shujin;  Yang, Mu;  Liu, Wenjing;  Liu, Yuqing;  Zhang, Lin
收藏  |  浏览/下载：22/0  |  提交时间：2020/12/24
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

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