Søgeresultater - Beiping Zeng

Increased diagnostic yield in a cohort of hearing loss families using a comprehensive stepwise strategy of molecular testing af Beiping Zeng, Beiping Zeng, Hongen Xu, Hongen Xu, Yanan Yu, Siqi Li, Yongan Tian, Tiandong Li, Zengguang Yang, Haili Wang, Guangke Wang, Mingxiu Chang, Wenxue Tang

Få fuldtekst

A likely pathogenic POLD1 variant associated with mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome in a Chinese patient af Bin Zuo, Hongen Xu, Zhaoyu Pan, Lu Mao, Haifeng Feng, Beiping Zeng, Wenxue Tang, Wei Lu

Få fuldtekst

A novel splicing variant in the TMC1 gene causes non-syndromic hearing loss in a Chinese family af Beiping Zeng, Hongen Xu, Yongan Tian, Qianyu Lin, Haifeng Feng, Zhifeng Zhang, Siqi Li, Wenxue Tang, Lishao Guo

Få fuldtekst

Molecular Mechanisms and Clinical Phenotypes of <i>GJB2</i> Missense Variants af Lu Mao, Yueqiang Wang, Lei An, Beiping Zeng, Yanyan Wang, Dmitrij Frishman, Mengli Liu, Yanyu Chen, Wenxue Tang, Hongen Xu

Få fuldtekst

Genetic and Phenotypic Variability in Chinese Patients With Branchio-Oto-Renal or Branchio-Oto Syndrome af Haifeng Feng, Hongen Xu, Hongen Xu, Bei Chen, Shuping Sun, Rongqun Zhai, Beiping Zeng, Wenxue Tang, Wenxue Tang, Wenxue Tang, Wei Lu

Få fuldtekst

Early truncation of the N‐terminal variable region of EYA4 gene causes dominant hearing loss without cardiac phenotype af Yanfang Mi, Danhua Liu, Beiping Zeng, Yongan Tian, Hui Zhang, Bei Chen, Juanli Zhang, Hong Xue, Wenxue Tang, Yulin Zhao, Hongen Xu

Få fuldtekst

High Genetic Heterogeneity in Chinese Patients With Waardenburg Syndrome Revealed by Next-Generation Sequencing af Sen Zhang, Hongen Xu, Hongen Xu, Yongan Tian, Danhua Liu, Xinyue Hou, Beiping Zeng, Bei Chen, Huanfei Liu, Ruijun Li, Xiaohua Li, Bin Zuo, Ryan Tang, Wenxue Tang, Wenxue Tang, Wenxue Tang

Få fuldtekst

Increased diagnosis of enlarged vestibular aqueduct by multiplex PCR enrichment and next‐generation sequencing of the SLC26A4 gene af Yongan Tian, Hongen Xu, Danhua Liu, Juanli Zhang, Zengguang Yang, Sen Zhang, Huanfei Liu, Ruijun Li, Yingtao Tian, Beiping Zeng, Tong Li, Qianyu Lin, Haili Wang, Xiaohua Li, Wei Lu, Ying Shi, Yan Zhang, Hui Zhang, Chang Jiang, Ying Xu, Bei Chen, Jun Liu, Wenxue Tang

Få fuldtekst