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
New role of LRP5, associated with nonsyndromic autosomal-recessive hereditary hearing loss (vol 38, pg 1421, 2017) 期刊论文
HUMAN MUTATION, 2018, 卷号: 39, 期号: 6
作者:  Xia, Wenjun;  Hu, Jiongjiong;  Liu, Fei;  Ma, Jing;  Sun, Shaoyang
收藏  |  浏览/下载：5/0  |  提交时间：2019/12/05
Noninvasive and Accurate Detection of Hereditary Hearing Loss Mutations with Buccal Swab Based on Droplet Digital PCR 期刊论文
2018, 卷号: 90, 期号: 15, 页码: 8919-8926
作者:  Wang, Fang;  Zhu, Lingxiang;  Liu, Baoxia;  Zhu, Xiurui;  Wangt, Nan
收藏  |  浏览/下载：4/0  |  提交时间：2020/01/03
SLC44A4 mutation causes autosomal dominant hereditary postlingual non-syndromic mid-frequency hearing loss 期刊论文
HUMAN MOLECULAR GENETICS, 2017, 卷号: 26, 期号: 2
作者:  Ma, Zhaoxin;  Xia, Wenjun;  Liu, Fei;  Ma, Jing;  Sun, Shaoyang
收藏  |  浏览/下载：7/0  |  提交时间：2019/12/05
SLC44A4 mutation causes autosomal dominant hereditary postlingual non-syndromic mid-frequency hearing loss. 期刊论文
Human molecular genetics, 2017, 卷号: 26, 期号: 16
作者:  Ma Zhaoxin;  Xia Wenjun;  Liu Fei;  Ma Jing;  Sun Shaoyang
收藏  |  浏览/下载：4/0  |  提交时间：2019/12/05
New role of LRP5, associated with nonsyndromic autosomal-recessive hereditary hearing loss 期刊论文
HUMAN MUTATION, 2017, 卷号: 38, 期号: 10
作者:  Xia, Wenjun;  Hu, Jiongjiong;  Liu, Fei;  Ma, Jing;  Sun, Shaoyang
收藏  |  浏览/下载：5/0  |  提交时间：2019/12/05
Searching the co-occurrence of pathogenic mutations for Leber's hereditary optic neuropathy and hearing loss in more than 26,000 whole mitochondrial genomes 期刊论文
MITOCHONDRIAL DNA PART A, 2016, 卷号: 27, 期号: 5
作者:  Yang, Haixin;  Liu, Rui;  Wang, Chuan-Chao
收藏  |  浏览/下载：3/0  |  提交时间：2019/12/05
The homozygote p.V27I/p.E114G variant of GJB2 is a putative indicator of nonsyndromic hearing loss in Chinese infants 期刊论文
INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, 2016, 卷号: 84
作者:  Chen, Wen-xia;  Huang, Yue;  Yang, Xiao-lin;  Duan, Bo;  Lu, Ping
收藏  |  浏览/下载：3/0  |  提交时间：2019/12/05
Research progress in pathogenic genes of hereditary non-syndromic mid-frequency deafness 期刊论文
FRONTIERS OF MEDICINE, 2016, 卷号: 10, 期号: 2
作者:  Xia, Wenjun;  Liu, Fei;  Ma, Duan
收藏  |  浏览/下载：9/0  |  提交时间：2019/12/05
A study of deafness-related genetic mutations as a basis for strategies to prevent hereditary hearing loss in Hebei, China 期刊论文
Intractable & Rare Diseases Research, 2015, 卷号: Vol.4 No.3, 页码: 131–138
作者:  Junzhen Zhu;  Qinying Cao;  Ning Zhang;  Jun Ge;  Donglan Sun
收藏  |  浏览/下载：2/0  |  提交时间：2019/03/26

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