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CORC

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A Novel Mutation in the Glucocorticoid Receptor Gene Causing Resistant Hypertension: A Case Report 期刊论文
AMERICAN JOURNAL OF HYPERTENSION, 2019, 卷号: 32, 期号: 11, 页码: 1126-1128
作者:  Lin, Lin;  Wu, Xia;  Hou, Yamin;  Zheng, Fei;  Xu, Rui
收藏  |  浏览/下载：9/0  |  提交时间：2019/12/11
A, p.R322H; c.334 G > C, p.G112R) identified in a Chinese patient with leukodystrophy involved in brain and spinal cord">A novel compound heterozygous mutation in AARS2 gene (c.965 G > A, p.R322H; c.334 G > C, p.G112R) identified in a Chinese patient with leukodystrophy involved in brain and spinal cord 期刊论文
JOURNAL OF HUMAN GENETICS, 2019, 卷号: 64, 期号: 10, 页码: 979-983
作者:  Song, Chengyuan;  Peng, Linliu;  Wang, Shengjun;  Liu, Yiming
收藏  |  浏览/下载：15/0  |  提交时间：2019/12/11
Identification of a novel mutation of FGFR3 gene in a large Chinese pedigree with hypochondroplasia by next-generation sequencing A case report and brief literature review 期刊论文
MEDICINE, 2019, 卷号: 98, 期号: 4
作者:  Yao, Guixiang;  Wang, Guangxin;  Wang, Dawei;  Su, Guohai
收藏  |  浏览/下载：9/0  |  提交时间：2019/12/11
Review of 52 cases with Hailey-Hailey disease identified 25 novel mutations in Chinese Han population 期刊论文
JOURNAL OF DERMATOLOGY, 2019, 卷号: 46, 期号: 11, 页码: 1024-1026
作者:  Wang, Zhe;  Li, Lulu;  Sun, Lele;  Mi, Zihao;  Fu, Fanghui
收藏  |  浏览/下载：14/0  |  提交时间：2019/12/11
Novel and de novo mutation of PCDH19 in Girls Clustering Epilepsy 期刊论文
Brain and Behavior, 2019
作者:  Yang L.;  Liu J.;  Su Q.;  Li Y.;  Yang X.
收藏  |  浏览/下载：4/0  |  提交时间：2019/12/11
Whole-Exome Sequencing Enables the Diagnosis of Variant-Type Xeroderma Pigmentosum 期刊论文
FRONTIERS IN GENETICS, 2019, 卷号: 10
作者:  Fang, Xiaokai;  Sun, Yonghu
收藏  |  浏览/下载：7/0  |  提交时间：2019/12/11
Novel mutation of EDA causes new asymmetrical X-linked hypohidrotic ectodermal dysplasia phenotypes in a female 期刊论文
JOURNAL OF DERMATOLOGY, 2019, 卷号: 46, 期号: 8, 页码: 731-733
作者:  Shen, Lu;  LIu, Cenying;  Gao, Ming;  Li, Hongmei;  Zhang, Yaowen
收藏  |  浏览/下载：13/0  |  提交时间：2019/12/11
Novel FSHR mutations in Han Chinese women with sporadic premature ovarian insufficiency 期刊论文
MOLECULAR AND CELLULAR ENDOCRINOLOGY, 2019, 卷号: 492
作者:  Liu, Hongli;  Guo, Ting;  Gong, Zheng;  Yu, Yongze;  Zhang, Yingxin
收藏  |  浏览/下载：4/0  |  提交时间：2019/12/11
A Novel PAX6 Heterozygous Mutation Found in a Chinese Family with Congenital Aniridia 期刊论文
GENETIC TESTING AND MOLECULAR BIOMARKERS, 2019, 卷号: 23, 期号: 7, 页码: 495-500
作者:  Xiao, Ying;  Liu, Xiangqin;  Yang, Chen;  Liu, Liping;  Guo, Xiaoxin
收藏  |  浏览/下载：11/0  |  提交时间：2019/12/11
A novel mutation of LRSAM1 in a Chinese family with Charcot-Marie-Tooth disease 期刊论文
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2018, 卷号: 23, 期号: 1, 页码: 55-59
作者:  Zhao, Guohua;  Song, Jie;  Yang, Mi;  Song, Xiuhua;  Liu, Xiaomin
收藏  |  浏览/下载：11/0  |  提交时间：2019/12/11

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