CORC

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CORC

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Mutations in TOP2B cause autosomal-dominant hereditary hearing loss via inhibition of the PI3K-Akt signalling pathway 期刊论文
FEBS LETTERS, 2019, 卷号: 593, 期号: 15
作者:  Xia, Wenjun;  Hu, Jiongjiong;  Ma, Jing;  Huang, Jianbo;  Jing, Tianrui
收藏  |  浏览/下载：31/0  |  提交时间：2019/12/05
Prevalence of Mutations in Deafness-Causing Genes in Cochlear Implanted Patients with Profound Nonsyndromic Sensorineural Hearing Loss in Shandong Province, China 期刊论文
ANNALS OF HUMAN GENETICS, 2017, 卷号: 81, 期号: 6, 页码: 258-266
作者:  Luo, Jianfen;  Bai, Xiaohui;  Zhang, Fengguo;  Xiao, Yun;  Gu, Lintao
收藏  |  浏览/下载：7/0  |  提交时间：2019/12/12
Exome sequencing identifies a mutation in TMC1 as a novel cause of autosomal recessive nonsyndromic hearing loss 期刊论文
JOURNAL OF TRANSLATIONAL MEDICINE, 2016, 卷号: 14
作者:  Hu, Jiongjiong;  Liu, Fei;  Xia, Wenjun;  Hao, Lili;  Lan, Jun
收藏  |  浏览/下载：4/0  |  提交时间：2019/12/05
Mutation Analysis of the Common Deafness Genes in Patients with Nonsyndromic Hearing Loss in Linyi by SNPscan Assay 期刊论文
BIOMED RESEARCH INTERNATIONAL, 2016
作者:  Zhang, Fengguo;  Xiao, Yun;  Xu, Lei;  Zhang, Xue;  Zhang, Guodong
收藏  |  浏览/下载：5/0  |  提交时间：2019/12/16
Common molecular etiology of nonsyndromic hearing loss in 484 patients of 3 ethnicities in northwest China 期刊论文
ACTA OTO-LARYNGOLOGICA, 2015, 卷号: 135, 期号: 6, 页码: 586-591
作者:  Duan, SH;  Zhu, YM;  Wang, YL;  Guo, YF;  Guo, YF (reprint author), Lanzhou Univ, Hosp 2, Dept Otolaryngol Head & Neck Surg, 82 Cuiyingmen St, Lanzhou 730030, Gansu, Peoples R China.
收藏  |  浏览/下载：3/0  |  提交时间：2017/01/10
Common molecular etiology of patients with nonsyndromic hearing loss in Tibetan, Tu nationality, and Mongolian patients in the northwest of China 期刊论文
ACTA OTO-LARYNGOLOGICA, 2013, 卷号: 133, 期号: 9, 页码: 930-934
作者:  Yang, XL;  Xu, BC;  Chen, XJ;  Bian, PP;  Ma, JL
收藏  |  浏览/下载：4/0  |  提交时间：2016/03/29
Clue to a New Deafness Gene: A Large Chinese Nonsyndromic Hearing Loss Family Linked to DFNA4 期刊论文
2012, 卷号: 39, 期号: 12, 页码: 653-657
作者:  Zong, Liang;  Lu, Chunye;  Zhao, Yali;  Li, Qian;  Han, Dongyi
收藏  |  浏览/下载：3/0  |  提交时间：2020/01/13
Loss-of-Function Mutations in the PRPS1 Gene Cause a Type of Nonsyndromic X-linked Sensorineural Deafness, DFN2 期刊论文
AMERICAN JOURNAL OF HUMAN GENETICS, 2010, 卷号: 86, 期号: 1
作者:  Liu, Xuezhong;  Han, Dongyi;  Li, Jianzhong;  Han, Bing;  Ouyang, Xiaomei
收藏  |  浏览/下载：5/0  |  提交时间：2019/12/19
Crystal structure of human mu-crystallin complexed with NADPH 期刊论文
PROTEIN SCIENCE, 2007, 卷号: 16, 期号: 2, 页码: 329
Cheng, ZJ; Sun, LH（孙丽华）; He, JH（何建华）; Gong, WM
收藏  |  浏览/下载：18/0  |  提交时间：2012/05/11
Low “penetrance” of phylogenetic knowledge in mitochondrial disease studies 期刊论文
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 2005, 卷号: 333, 期号: 1, 页码: 122-130
作者:  Bandelt HJ[*];  Achilli A;  Kong QP;  Salas A;  Lutz-Bonengel S
收藏  |  浏览/下载：25/0  |  提交时间：2010/08/24

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