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CORC

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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
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
Analysis of genotype-phenotype correlation for a novel MYH7-D554Y mutation identified in an ethnic han Chinese pedigree affected with hypertrophic cardiomyopathy 期刊论文
Chinese Journal of Medical Genetics, 2018, 卷号: 35, 页码: 667-671
作者:  Yang, Qianli;  Wang, Bo;  Wang, Jing;  Sun, Chao;  Ma, Zhiling
收藏  |  浏览/下载：6/0  |  提交时间：2019/11/19
Analysis of the genotype-phenotype correlation in patients with phenylketonuria in mainland China 期刊论文
SCIENTIFIC REPORTS, 2018, 卷号: Vol.8
作者:  Li, Nana;  He, Chunhua;  Li, Jing;  Tao, Jing;  Liu, Zhen
收藏  |  浏览/下载：4/0  |  提交时间：2019/02/25
Identification of a novel mutation of RUNX2 in a family with supernumerary teeth and craniofacial dysplasia by whole-exome sequencing: A case report and literature review 期刊论文
MEDICINE, 2018, 卷号: 97, 期号: 32
作者:  Ma, Dan;  Wang, Xuxia;  Guo, Jun;  Zhang, Jun;  Cai, Tao
收藏  |  浏览/下载：3/0  |  提交时间：2019/12/11
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, 页码: 306-311
作者:  Chen, X.;  Sheng, X.;  Liu, G.;  Liu, Y.;  Li, H.
收藏  |  浏览/下载：3/0  |  提交时间：2019/12/11
PRRT2 mutations in a cohort of Chinese families with paroxysmal kinesigenic dyskinesia and genotype-phenotype correlation reanalysis in literatures 期刊论文
INTERNATIONAL JOURNAL OF NEUROSCIENCE, 2018, 卷号: 128, 期号: 8, 页码: 751-760
作者:  Zhao, Guohua;  Liu, Xiaomin;  Zhang, Qiong;  Wang, Kang
收藏  |  浏览/下载：3/0  |  提交时间：2019/12/11
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

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