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GJB2基因突变导致的遗传性耳聋 期刊论文
中国听力语言康复科学杂志, 2019, 卷号: 17, 期号: 1
作者:  王美兰;  马静
收藏  |  浏览/下载:7/0  |  提交时间:2019/12/04
Identification of causative variants in patients with non-syndromic hearing loss in the Minnan region, China by targeted next-generation sequencing 期刊论文
ACTA OTO-LARYNGOLOGICA, 2019, 卷号: 139, 期号: 3
作者:  Han, Peng;  Wu, Xiaohui;  Gao, Xingqiang;  Zhou, Yulin
收藏  |  浏览/下载:19/0  |  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
G59S mutation in the GJB2 gene in a Chinese family with classic Vohwinkel syndrome 期刊论文
JOURNAL OF DERMATOLOGY, 2019, 卷号: Vol.46 No.2, 页码: 154-157
作者:  Xie, Ming-xing;  Yang, Wei-ping;  Luo, Hao-jie;  Ismail, Ferina;  Hao, Yang-yang
收藏  |  浏览/下载:7/0  |  提交时间:2019/12/17
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
The spatial distribution pattern of connexin26 expression in supporting cells and its role in outer hair cell survival 期刊论文
Cell death & disease, 2018, 卷号: 9, 页码: 14
作者:  Chen, Sen;  Xu, Kai;  Xie, Le;  Cao, Hai-Yan;  Wu, Xia
收藏  |  浏览/下载:78/0  |  提交时间:2019/05/08
A Novel GJB2 compound heterozygous mutation c.257C > G (p.T86R)/c.176del16 (p.G59A fs*18) causes sensorineural hearing loss in a Chinese family 期刊论文
JOURNAL OF CLINICAL LABORATORY ANALYSIS, 2018, 卷号: 32, 期号: 7
作者:  Shi, Xi;  Zhang, Yan;  Qiu, Shiwei;  Zhuang, Wei;  Yuan, Na
收藏  |  浏览/下载:15/0  |  提交时间:2019/12/05


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