Connexin-26 mutations in sporadic non-syndromal sensorineural deafness
Author:
Publisher
Elsevier BV
Subject
General Medicine
Reference5 articles.
1. Nonsyndromic hearing impairment: unparalleled heterogeneity;Van Camp;Am J Hum Genet,1997
2. Connexin 26 mutations in hereditary non-syndromic sensorineural deafness;Kelsell;Nature,1997
3. Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene;Denoyelle;Hum Mol Genet,1997
4. Connexin 26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans;Zelante;Hum Mol Genet,1997
5. Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci;Kajiwara;Science,1994
Cited by 100 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. Molecular alteration in the Gap Junction Beta 2 (GJB2) gene associated with non-syndromic sensorineural hearing impairment;Intractable & Rare Diseases Research;2021-02-28
2. A Mutational Analysis of GJB2, SLC26A4, MT-RNA1, and GJB3 in Children with Nonsyndromic Hearing Loss in the Henan Province of China;Genetic Testing and Molecular Biomarkers;2019-01
3. DFNB1 Non-syndromic Hearing Impairment: Diversity of Mutations and Associated Phenotypes;Frontiers in Molecular Neuroscience;2017-12-22
4. Personalized Medicine for Hereditary Deafness;Rare Diseases;2014-07-12
5. X-Linked Hearing Loss: Two Gene Mutation Examples Provide Generalizable Implications for Clinical Care;American Journal of Audiology;2014-06
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