CORC

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CORC

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Decreased activity of RCAN1.4 is a potential risk factor for congenital heart disease in a Han Chinese population 期刊论文
PROTEIN & CELL, 2018, 卷号: 9, 期号: 12
作者:  Cheng, Liangping;  Li, Peiqiang;  Wang, He;  Yang, Xueyan;  Zhou, Huiming
收藏  |  浏览/下载：4/0  |  提交时间：2019/12/05
A missense mutation in TCN2 is associated with decreased risk for Congenital Heart Defects and may increase cellular uptake of vitamin B12 via Megalin 期刊论文
ONCOTARGET, 2017, 卷号: 8, 期号: 33
作者:  Li, Peiqiang;  Huang, Lijuan;  Zheng, Yufang;  Pan, Xuedong;  Peng, Rui
收藏  |  浏览/下载：3/0  |  提交时间：2019/12/05
Genetic analysis of rare coding mutations of CELSR1-3 in congenital heart and neural tube defects in Chinese people 期刊论文
CLINICAL SCIENCE, 2016, 卷号: 130, 期号: 24
作者:  Qiao, Xiaojin;  Liu, Yahui;  Li, Peiqiang;  Chen, Zhongzhong;  Li, Huili
收藏  |  浏览/下载：17/0  |  提交时间：2019/12/05
Variants in the Regulatory Region of WNT5A Reduced Risk of Cardiac Conotruncal Malformations in the Chinese Population 期刊论文
SCIENTIFIC REPORTS, 2015, 卷号: 5
作者:  Li, Peiqiang;  Li, Haijie
收藏  |  浏览/下载：2/0  |  提交时间：2019/12/19
A 4.6 kb genomic duplication on 20p12.2-12.3 is associated with brachydactyly type A2 in a Chinese family 期刊论文
JOURNAL OF MEDICAL GENETICS, 2011, 卷号: 48, 期号: 5
作者:  Su, Peiqiang;  Ding, Hongke;  Huang, Dongsheng;  Zhou, Yan;  Huang, Weijun
收藏  |  浏览/下载：2/0  |  提交时间：2019/12/19
Novel Mutations of EXT1 and EXT2 Genes Among Families and Sporadic Cases with Multiple Exostoses 期刊论文
GENETIC TESTING AND MOLECULAR BIOMARKERS, 2010, 卷号: 14, 期号: 6
作者:  Pei, Yuanyuan;  Wang, Yiming;  Huang, Weijun;  Hu, Bin;  Huang, Dongsheng
收藏  |  浏览/下载：2/0  |  提交时间：2019/12/19
Age at onset-dependent presentations of premature hip osteoarthritis, avascular necrosis of the femoral head, or Legg-Calve-Perthes disease in a single family, consequent upon a p.Gly1170Ser mutation of COL2A1 期刊论文
ARTHRITIS AND RHEUMATISM, 2008, 卷号: 58, 期号: 6
作者:  Su, Peiqiang;  Li, Ru;  Liu, Shangli;  Zhou, Yan;  Wang, Xinguang
收藏  |  浏览/下载：3/0  |  提交时间：2019/12/19

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