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CORC

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A Novel Variant in Non-coding Region of GJB1 Is Associated With X-Linked Charcot-Marie-Tooth Disease Type 1 and Transient CNS Symptoms 期刊论文
FRONTIERS IN NEUROLOGY, 2019, 卷号: 10
作者:  Luo, Si;  Jin, Hui;  Chen, Jiajun;  Zhang, Lei
收藏  |  浏览/下载：6/0  |  提交时间：2019/12/05
Complex ATP7B mutation patterns in Wilson disease and evaluation of a yeast model for functional analysis of variants 期刊论文
HUMAN MUTATION, 2019, 卷号: 40, 期号: 5
作者:  Lv, Tingxia;  Li, Xiaojin;  Zhang, Wei;  Zhou, Donghu;  Xu, Anjian
收藏  |  浏览/下载：36/0  |  提交时间：2019/12/05
SCN4A p.R675Q Mutation Leading to Normokalemic Periodic Paralysis: A Family Report and Literature Review 期刊论文
FRONTIERS IN NEUROLOGY, 2019, 卷号: 10
作者:  Shi, Jiejing;  Qu, Qianqian;  Liu, Haiyan;  Cui, Wenhao;  Zhang, Yan
收藏  |  浏览/下载：20/0  |  提交时间：2019/12/05
Characteristics and Follow-Up of 13 pedigrees with Gitelman syndrome 期刊论文
JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION, 2019, 卷号: 42, 期号: 6, 页码: 653-665
作者:  Zhong, F.;  Ying, H.;  Jia, W.;  Zhou, X.;  Zhang, H.
收藏  |  浏览/下载：3/0  |  提交时间：2019/12/11
Cervical Spinal Involvement in a Chinese Pedigree With Pontine Autosomal Dominant Microangiopathy and Leukoencephalopathy Caused by a 3 ' Untranslated Region Mutation of COL4A1 Gene 期刊论文
STROKE, 2019, 卷号: 50, 期号: 9, 页码: 2307-2313
作者:  Zhao, Yu-Ying;  Duan, Ruo-Nan;  Ji, Lin;  Liu, Qi-Ji;  Yan, Chuan-Zhu
收藏  |  浏览/下载：17/0  |  提交时间：2019/12/11
Sarcomere variants in arrhythmogenic cardiomyopathy: Pathogenic factor or bystander? 期刊论文
2019, 卷号: 687, 页码: 82-89
作者:  Chen, Kai;  Rao, Man;  Guo, Guangran;  Chen, Xiao;  Chen, Liang
收藏  |  浏览/下载：6/0  |  提交时间：2020/01/03
Novel mutation in FTHL17 gene in pedigree with 46,XY pure gonadal dysgenesis 期刊论文
2019, 卷号: 111, 期号: 6, 页码: 1226-+
作者:  Tang, Ruiyi;  Liu, Xiao;  Pan, Lingya;  Chen, Rong
收藏  |  浏览/下载：5/0  |  提交时间：2020/01/03
Algorithms for Pedigree Comparison 期刊论文
IEEE/ACM Transactions on Computational Biology and Bioinformatics, 2018, 卷号: 15, 期号: 2, 页码: 422-431
作者:  Chen, Zhi-Zhong*;  Feng, Qilong;  Shen, Chao;  Wang, Jianxin;  Wang, Lusheng
收藏  |  浏览/下载：3/0  |  提交时间：2019/12/03
Investigation of inflammatory bowel disease risk factors in 4 families in central China 期刊论文
EXPERIMENTAL AND THERAPEUTIC MEDICINE, 2018, 卷号: 15, 期号: 2
作者:  Xu, Shufang;  Zou, Hui;  Zhang, Heng;  Zhu, Siying;  Zhou, Rui
收藏  |  浏览/下载：10/0  |  提交时间：2019/12/05
Characteristics and Follow-Up of 13 pedigrees with Gitelman syndrome 期刊论文
Journal of Endocrinological Investigation, 2018
作者:  
收藏  |  浏览/下载：2/0  |  提交时间：2019/12/11

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