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

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 MYO7A Associated with Usher Syndrome 1 in a Chinese Family

por Gao, Xue, Wang, Guo-Jian, Yuan, Yong-Yi, Xin, Feng, Han, Ming-Yu, Lu, Jing-Qiao, Zhao, Hui, Yu, Fei, Xu, Jin-Cao, Zhang, Mei-Guang, Dong, Jiang, Lin, Xi, Dai, Pu
Publicado 2014

Correction: Novel Compound Heterozygous Mutations in MYO7A Associated with Usher Syndrome 1 in a Chinese Family

por Gao, Xue, Wang, Guo-Jian, Yuan, Yong-Yi, Xin, Feng, Han, Ming-Yu, Lu, Jing-Qiao, Zhao, Hui, Yu, Fei, Xu, Jin-Cao, Zhang, Mei-Guang, Dong, Jiang, Lin, Xi, Dai, Pu
Publicado 2015

Novel Compound Heterozygous TMC1 Mutations Associated with Autosomal Recessive Hearing Loss in a Chinese Family

por Gao, Xue, Su, Yu, Guan, Li-Ping, Yuan, Yong-Yi, Huang, Sha-Sha, Lu, Yu, Wang, Guo-Jian, Han, Ming-Yu, Yu, Fei, Song, Yue-Shuai, Zhu, Qing-Yan, Wu, Jing, Dai, Pu
Publicado 2013

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

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

A regulatory mutant on TRIM26 conferring the risk of nasopharyngeal carcinoma by inducing low immune response

por Lyu, Xiao‐Ming, Zhu, Xiao‐Wei, Zhao, Manli, Zuo, Xian‐Bo, Huang, Zhong‐Xi, Liu, Xiao, Jiang, Tao, Yang, Xue‐Xi, Li, Xin, Long, Xiao‐Bing, Wang, Jian‐Guo, Li, Jin‐Bang, Han, Ming‐Yu, Wang, Shuang, Liu, Teng‐Fei, Zhang, Bo, Sun, Tao, Cheng, Zhi, Qiu, Mo‐Chang, Dong, Lei, Zheng, Lu, Zhang, Long‐Cheng, Wang, Jia‐Hong, Wei, Gan‐Guan, Yao, Kaitai, Wang, Qian, Zheng, Hou‐Feng, Li, Xin
Publicado 2018