CORC

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CORC

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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
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
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
Single nucleotide polymorphism rs2274084 of gap junction protein beta 2 gene among Epstein- Barr virus-associated tumors 期刊论文
CANCER BIOMARKERS, 2018, 卷号: Vol.21 No.3, 页码: 499-504
作者:  Xiao, H;  Liu, W;  Zhao, ZZ;  Zhang, Y;  Song, YY
收藏  |  浏览/下载：4/0  |  提交时间：2019/12/26
SNP  GJB2  Connexin  26  EBV  NPC  
Children with GJB2 gene mutations have various audiological phenotypes 期刊论文
BIOSCIENCE TRENDS, 2018, 卷号: Vol.12 No.4, 页码: 419-425
作者:  Wang, Xianlei;  Huang, Lihui;  Zhao, Xuelei;  Wang, Xueyao;  Cheng, Xiaohua
收藏  |  浏览/下载：11/0  |  提交时间：2019/12/26
Mutations of connexin 26 (GJB2) gene in a Chinese keratitis-ichthyosis- deafness syndrome patient with squamous cell carcinoma 期刊论文
JOURNAL OF DERMATOLOGY, 2016, 卷号: 43, 期号: 1,SI, 页码: 104-106
作者:  Liu, Jingjing[1];  Fang, Shan[2];  Ding, Qiuyun[3];  Wang, Yanli[4];  Ye, Teng[5]
收藏  |  浏览/下载：4/0  |  提交时间：2019/12/21
The deafness-causing mutation c.508_511dup in the GJB2 gene and a literature review 期刊论文
ACTA OTO-LARYNGOLOGICA, 2015, 卷号: 135, 期号: 9, 页码: 914-918
作者:  Zhu, YM;  Li, Y;  Wang, YL;  Bian, PP;  Xu, BC
收藏  |  浏览/下载：3/0  |  提交时间：2017/01/10
TaqMan探针熔解曲线技术检测GJB2基因突变 Diagnosis of hereditary deafess with GJB2 gene mutations based on TaqMan probe melting curve technology 期刊论文
2015, 卷号: 13, 期号: 3, 页码: 541
作者:  高慧[1];  刘晶晶[2];  沈姗姗[1];  梁少明[2];  危林耿[2]
收藏  |  浏览/下载：9/0  |  提交时间：2019/12/13
First healthy baby born after PGD (preimplantation genetic diagnosis) - noninvasive haplotype screening in couples both carrying deafness gene GJB2 mutation 会议论文
31st Annual Meeting of the European-Society-of-Human-Reproduction-and-Embryology (ESHRE), JUN 14-17, 2015
作者:  Chen, Z.;  Gao, Y.;  Huang, S.;  Yan, J.;  Li, J.
收藏  |  浏览/下载：11/0  |  提交时间：2019/12/31

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