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CORC

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Novel Splice-Site Mutation of KRT1 Underlies Diffuse Palmoplantar Keratoderma in a Large Chinese Pedigree 期刊论文
GENETIC TESTING AND MOLECULAR BIOMARKERS, 2018, 卷号: 22, 页码: 709-713
作者:  Tang, Zhuang-Li;  Wang, Tian;  Xiao, Tong;  Wang, Ya-Qi;  Ma, Cheng-Wen
收藏  |  浏览/下载：4/0  |  提交时间：2019/11/19
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
Detection of Novel Antigen MLAA-34 Gene Mutation in Acute Monocytic Leukemia and Its Correlation with Efficacy]. 期刊论文
Zhongguo shi yan xue ye xue za zhi, 2018, 卷号: 26, 页码: 97-104
作者:  Lei Bo;  Zhang Wang-Gang;  Chen Yin-Xia;  He Ai-Li;  Cao Xing-Mei
收藏  |  浏览/下载：4/0  |  提交时间：2019/11/19
A NOVEL CACNA1C MUTATION IN A CHINESE FAMILY WITH BRUGADA SYNDROME 期刊论文
CARDIOLOGY, 2018, 卷号: 140, 页码: 216-216
作者:  Cao, M.;  Han, D.;  Sun, C.;  Wu, J.;  Sun, J.
收藏  |  浏览/下载：2/0  |  提交时间：2019/11/26
Novel phenotype-genotype correlations of hypertrophic cardiomyopathy caused by mutation in α-actin and myosin-binding protein genes in three unrelated Chinese families. 期刊论文
Journal of cardiology, 2018
作者:  Yang Qian-Li;  Bian Yang-Yang;  Wang Bo;  Zuo Lei;  Zhou Meng-Yao
收藏  |  浏览/下载：6/0  |  提交时间：2019/11/26
Identification of a novel mutation (Ala66Thr) of SRY gene causes XY pure gonadal dysgenesis by affecting DNA binding activity and nuclear import 期刊论文
GENE, 2018, 卷号: 651, 页码: 143-151
作者:  Wang, Xiang;  Xue, Mei;  Zhao, Minggang;  He, Fang;  Li, Cui
收藏  |  浏览/下载：26/0  |  提交时间：2019/11/26
Eight Novel Mutations of the ADAR1 Gene in Chinese Patients with Dyschromatosis Symmetrica Hereditaria 期刊论文
GENETIC TESTING AND MOLECULAR BIOMARKERS, 2018, 卷号: 22, 页码: 104-108
作者:  Tang, Zhuang-li;  Wang, Shuang;  Tu, Chen;  Wang, Tian;  Ma, Cheng-wen
收藏  |  浏览/下载：10/0  |  提交时间：2019/11/26
Whole-exome sequencing identifies a novel de novo mutation in DYNC1H1 in epileptic encephalopathies 期刊论文
SCIENTIFIC REPORTS, 2017, 卷号: 7
作者:  Lin, Zhongdong;  Liu, Zhenwei;  Li, Xiucui;  Li, Feng;  Hu, Ying
收藏  |  浏览/下载：3/0  |  提交时间：2019/11/26
A Novel Missense Mutation in Very Long-chain Acyl-CoA Dehydrogenase Deficiency. 期刊论文
Indian pediatrics, 2016, 卷号: 53, 页码: 262
作者:  Bu Qingting;  Pan Zhenyu
收藏  |  浏览/下载：4/0  |  提交时间：2019/11/26
A Novel Missense Mutation in Very Long-chain Acyl-CoA Dehydrogenase Deficiency 期刊论文
INDIAN PEDIATRICS, 2016, 卷号: 53, 页码: 262-262
作者:  Bu, Qingting;  Pan, Zhenyu
收藏  |  浏览/下载：5/0  |  提交时间：2019/11/26

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