Novel Mutations and Mutation Combinations of TMPRSS3 Cause Various Phenotypes in One Chinese Family with Autosomal Recessive Hearing Impairment

por Gao, Xue, Yuan, Yong-Yi, Wang, Guo-Jian, Xu, Jin-Cao, Su, Yu, Lin, Xi, Dai, Pu
Publicado 2017

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

A novel variant in FOXC1 associated with atypical Axenfeld-Rieger syndrome

por Wang, Rui, Wang, Wei-Qian, Li, Xiao-Qin, Zhao, Juan, Yang, Kun, Feng, Yong, Guo, Meng-Meng, Liu, Min, Liu, Xing, Wang, Xi, Yuan, Yong-Yi, Gao, Xue, Xu, Jin-Cao
Publicado 2021

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

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

Cochlear implantation in a patient with congenital microtia, cochlear hypoplasia, venous anomalies of the temporal bone and laryngomalacia: Challenges and surgical considerations

por Gao, Xue, Zhao, Juan, Li, Guan-Hua, Wang, Xi, Wang, Wei, Liu, Xing, Liu, Min, Guo, Meng-Meng, Wang, Zhen-Dong, Lu, Ya-Yan, Li, Jia, Feng, Yong, Yang, Kun, Xu, Jin-Cao, Dai, Pu
Publicado 2023

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

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