CORC

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CORC

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Identification of novel variants in MYO15A, OTOF, and RDX with hearing loss by next-generation sequencing 期刊论文
MOLECULAR GENETICS & GENOMIC MEDICINE, 2019, 卷号: 7, 期号: 8
作者:  Bai, Xuejing;  Nian, Shiyan;  Feng, Lei;  Ruan, Qingrong;  Luo, Xuan
收藏  |  浏览/下载：19/0  |  提交时间：2019/12/04
The p.P240L variant of CDH23 and the risk of nonsyndromic hearing loss: a meta-analysis 期刊论文
EUROPEAN ARCHIVES OF OTO-RHINO-LARYNGOLOGY, 2019, 卷号: 276, 期号: 1
作者:  Xu, Tianni;  Wang, Ping;  Zhu, Wei
收藏  |  浏览/下载：12/0  |  提交时间：2019/12/05
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
A humanized mouse model, demonstrating progressive hearing loss caused by MYO6 p.C442Y, is inherited in a semi-dominant pattern 期刊论文
HEARING RESEARCH, 2019, 卷号: 379
作者:  Wang, Jinghan;  Shen, Jun;  Guo, Luo;  Cheng, Cheng;  Chai, Renjie
收藏  |  浏览/下载：24/0  |  提交时间：2019/12/05
GJB2 c.235delC variant associated with autosomal recessive nonsyndromic hearing loss and auditory neuropathy spectrum disorder. 期刊论文
Genetics and molecular biology, 2019
作者:  Hong Xia;  Xiangjun Huang;  Hongbo Xu;  Yong-An Zhou;  Lina Gong
收藏  |  浏览/下载：24/0  |  提交时间：2019/12/13
GJB2 c.235delC variant associated with autosomal recessive nonsyndromic hearing loss and auditory neuropathy spectrum disorder 期刊论文
Genet Mol Biol, 2019, 卷号: Vol.42 No.1, 页码: 48-51
作者:  Hong Xia;  Xiangjun Huang;  Hongbo Xu;  Yong-an Zhou;  Lina Gong
收藏  |  浏览/下载：77/0  |  提交时间：2019/12/13
GJB2 c.235delC variant associated with autosomal recessive nonsyndromic hearing loss and auditory neuropathy spectrum disorder. 期刊论文
Genetics and molecular biology, 2019, 卷号: Vol.42 No.1, 页码: 48-51
作者:  Hong Xia;  Xiangjun Huang;  Hongbo Xu;  Yong-An Zhou;  Lina Gong
收藏  |  浏览/下载：13/0  |  提交时间：2019/12/17
Dysfunction of GRAP, encoding the GRB2-related adaptor protein, is linked to sensorineural hearing loss 期刊论文
Proceedings of the National Academy of Sciences of the United States of America, 2019, 卷号: 116, 期号: 4, 页码: 1347-1352
作者:  Li C.;  Bademci G.;  Subasioglu A.;  Diaz-Horta O.;  Zhu Y.
收藏  |  浏览/下载：7/0  |  提交时间：2019/12/11
Sequence variants in genes causing nonsyndromic hearing loss in a Pakistani cohort 期刊论文
2019, 卷号: 7, 期号: 9, 页码: e917
作者:  Khan Amjad;  Han Shirui;  Wang Rongrong;  Ansar Muhammad;  Ahmad Wasim
收藏  |  浏览/下载：3/0  |  提交时间：2020/01/03
GJB2 c.235delC variant associated with autosomal recessive nonsyndromic hearing loss and auditory neuropathy spectrum disorder 期刊论文
Genetics and molecular biology, 2019, 卷号: 42, 期号: 1, 页码: 48-51
作者:  Xia, Hong;  Huang, Xiangjun;  Xu, Hongbo;  Zhou, Yong-an;  Gong, Lina
收藏  |  浏览/下载：22/0  |  提交时间：2019/12/27

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