A follow‐up study of a Chinese family with Waardenburg syndrome type II caused by a truncating mutation of MITF gene

por Yang, Shuzhi, Wang, Cuicui, Zhou, Chengyong, Kang, DongYang, Zhang, Xin, Yuan, Huijun
Publicado 2020

Clinical and molecular characterization of POU3F4 mutations in multiple DFNX2 Chinese families

por Su, Yu, Gao, Xue, Huang, Sha-Sha, Mao, Jing-Ning, Huang, Bang-Qing, Zhao, Jian-Dong, Kang, Dong-Yang, Zhang, Xin, Dai, Pu
Publicado 2018

Hearing Phenotypes of Patients with Hearing Loss Homozygous for the GJB2 c.235delc Mutation

por Guo, Chang, Huang, Sha-Sha, Yuan, Yong-Yi, Zhou, Ying, Wang, Ning, Kang, Dong-Yang, Yang, Su-Yan, Zhang, Xin, Gao, Xue, Dai, Pu
Publicado 2020

A newborn male with Myhre syndrome, hearing loss, and complete syndactyly of fingers 3–4

por Yang, Kun, Wang, Xi, Wang, Wei‐Qian, Han, Ming‐Yu, Hu, Li‐Min, Kang, Dong‐Yang, Yang, Jin‐Yuan, Liu, Min, Gao, Xue, Yuan, Yong‐Yi, Xu, Jin‐Cao
Publicado 2022

Four Novel Variants in POU4F3 Cause Autosomal Dominant Nonsyndromic Hearing Loss

por Cui, Tian-Yi, Gao, Xue, Huang, Sha-Sha, Sun, Yan-Yan, Zhang, Si-Qi, Jiang, Xin-Xia, Yang, Yan-Zhong, Kang, Dong-Yang, Zhu, Qing-Wen, Yuan, Yong-Yi
Publicado 2020

Genetic Analysis of the LOXHD1 Gene in Chinese Patients With Non-Syndromic Hearing Loss

por Wang, Wei-Qian, Gao, Xue, Huang, Sha-Sha, Kang, Dong-Yang, Xu, Jin-Cao, Yang, Kun, Han, Ming-Yu, Zhang, Xin, Yang, Su-Yan, Yuan, Yong-Yi, Dai, Pu
Publicado 2022

Identification of TMPRSS3 as a Significant Contributor to Autosomal Recessive Hearing Loss in the Chinese Population

por Gao, Xue, Huang, Sha-Sha, Yuan, Yong-Yi, Xu, Jin-Cao, Gu, Ping, Bai, Dan, Kang, Dong-Yang, Han, Ming-Yu, Wang, Guo-Jian, Zhang, Mei-Guang, Li, Jia, Dai, Pu
Publicado 2017

Novel compound heterozygous mutations in the MYO15A gene in autosomal recessive hearing loss identified by whole-exome sequencing

por Gao, Xue, Zhu, Qing-yan, Song, Yue-Shuai, Wang, Guo-Jian, Yuan, Yong-Yi, Xin, Feng, Huang, Sha-Sha, Kang, Dong-Yang, Han, Ming-Yu, Guan, Li-ping, Zhang, Jian-guo, Dai, Pu
Publicado 2013

A Missense Mutation in POU4F3 Causes Midfrequency Hearing Loss in a Chinese ADNSHL Family

por Gao, Xue, Xu, Jin-Cao, Wang, Wei-Qian, Yuan, Yong-Yi, Bai, Dan, Huang, Sha-Sha, Wang, Guo-Jian, Su, Yu, Li, Jia, Kang, Dong-Yang, Zhang, Mei-Guang, Lin, Xi, Dai, Pu
Publicado 2018

Identification of Two Novel Compound Heterozygous PTPRQ Mutations Associated with Autosomal Recessive Hearing Loss in a Chinese Family

por Gao, Xue, Su, Yu, Chen, Yu-Lan, Han, Ming-Yu, Yuan, Yong-Yi, Xu, Jin-Cao, Xin, Feng, Zhang, Mei-Guang, Huang, Sha-Sha, Wang, Guo-Jian, Kang, Dong-Yang, Guan, Li-Ping, Zhang, Jian-Guo, Dai, Pu
Publicado 2015

Addition of an affected family member to a previously ascertained autosomal recessive nonsyndromic hearing loss pedigree and systematic phenotype-genotype analysis of splice-site v...

por Yang, Jin-Yuan, Wang, Wei-Qian, Han, Ming-Yu, Huang, Sha-Sha, Wang, Guo-Jian, Su, Yu, Xu, Jin-Cao, Fu, Ying, Kang, Dong-Yang, Yang, Kun, Zhang, Xin, Liu, Xing, Gao, Xue, Yuan, Yong-Yi, Dai, Pu
Publicado 2022

A Novel Mutation in the TECTA Gene in a Chinese Family with Autosomal Dominant Nonsyndromic Hearing Loss

por Su, Yu, Tang, Wen-Xue, Gao, Xue, Yu, Fei, Dai, Zhi-Yao, Zhao, Jian-Dong, Lu, Yu, Ji, Fei, Huang, Sha-Sha, Yuan, Yong-Yi, Han, Ming-Yu, Song, Yue-Shuai, Zhu, Yu-Hua, Kang, Dong-Yang, HAN, Dong-Yi, Dai, Pu
Publicado 2014

Mutation of IFNLR1, an interferon lambda receptor 1, is associated with autosomal-dominant non-syndromic hearing loss

por Gao, Xue, Yuan, Yong-Yi, Lin, Qiong-Fen, Xu, Jin-Cao, Wang, Wei-Qian, Qiao, Yue-Hua, Kang, Dong-Yang, Bai, Dan, Xin, Feng, Huang, Sha-Sha, Qiu, Shi-Wei, Guan, Li-Ping, Su, Yu, Wang, Guo-Jian, Han, Ming-Yu, Jiang, Yi, Liu, Han-Kui, Dai, Pu
Publicado 2018