Výsledky vyhledávání - "Xiao-Jiang Lin"

Genetic analysis of a Chinese family with members affected with Usher syndrome type II and Waardenburg syndrome type IV

Autor: Dongye Chen, Dehong Yu, Xiao-Jiang Lin, Xueling Wang, Xiangrong Tang, Hao Wu, Yongchuan Chai

Publikováno v: International Journal of Pediatric Otorhinolaryngology. 102:114-118

Aims The purpose of this study was to identify the genetic causes of a family presenting with multiple symptoms overlapping Usher syndrome type II (USH2) and Waardenburg syndrome type IV (WS4). Methods Targeted next-generation sequencing including th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94301b2193940c2d12f338538614300a
https://doi.org/10.1016/j.ijporl.2017.08.012

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A dominant variant in DMXL2 is linked to nonsyndromic hearing loss

Autor: Xing-Feng Liu, Tao Yang, Hao Wu, Changling Sun, Dehong Yu, Zhiwu Huang, Xiaowen Wang, Lianhua Sun, Dongye Chen, Xiao-Jiang Lin, Yongchuan Chai, Weidong Zhu, Dan Zhang, Ying Chen, Fuxin Shi, Xueling Wang

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics. 19(5)

To explore the genetic etiology of deafness in a dominant family with late-onset, progressive, nonsyndromic hearing loss. Genome-wide linkage analysis was performed for 21 family members. Candidate pathogenic variants were identified by whole-exome s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28a18042ef7751dae2db94f30430590c
https://pubmed.ncbi.nlm.nih.gov/27657680

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