Hereditary hearing loss: a 96 gene targeted sequencing protocol reveals novel alleles in a series of Italian and Qatari patients
Author:
Publisher
Elsevier BV
Subject
Genetics,General Medicine
Reference31 articles.
1. Predicting functional effect of human missense mutations using PolyPhen-2;Adzhubei;Current Protocols in Human Genetics,2013
2. Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan;Ahmed;BMC Medical Genetics,2004
3. Hearing loss features in GJB2 biallelic mutations and GJB2/GJB6 digenic inheritance in a large Italian cohort;Cama;International Journal of Audiology,2009
4. Molecular analysis of the TMPRSS3 gene in Moroccan families with non-syndromic hearing loss;Charif;Biochemical and Biophysical Research Communications,2012
5. The variant call format and VCFtools. 1000 Genomes Project Analysis Group;Danecek;Bioinformatics,2011
Cited by 47 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. The genetic basis and the diagnostic yield of genetic testing related to nonsyndromic hearing loss in Qatar;Scientific Reports;2024-02-20
2. Analysis of the genotype–phenotype correlation of MYO15A variants in Chinese non-syndromic hearing loss patients;BMC Medical Genomics;2022-03-26
3. TMPRSS3 Gene Variants With Implications for Auditory Treatment and Counseling;Frontiers in Genetics;2021-11-19
4. Genetic etiology of hereditary hearing loss in the Gulf Cooperation Council countries;Human Genetics;2021-08-02
5. Recessive LOXHD1 variants cause a prelingual down-sloping hearing loss: genotype-phenotype correlation and three additional children with novel variants;International Journal of Pediatric Otorhinolaryngology;2021-06
1.学者识别学者识别
2.学术分析学术分析
3.人才评估人才评估
"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370
www.globalauthorid.com
TOP
Copyright © 2019-2024 北京同舟云网络信息技术有限公司 京公网安备11010802033243号 京ICP备18003416号-3