Simultaneous Screening of Multiple Mutations by Invader Assay Improves Molecular Diagnosis of Hereditary Hearing Loss: A Multicenter Study
Author:
Publisher
Public Library of Science (PLoS)
Subject
Multidisciplinary
Reference22 articles.
1. Newborn hearing screening: a silent revolution.;CC Morton;N Engl J Med,2006
2. Application of deafness diagnostic screening panel based on deafness mutation/gene database using Invader Assay.;S Abe;Genetic Testing,2007
3. Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations.;S Usami;Hum Genet,1999
4. GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation.;A Ohtsuka;Hum Genet,2003
5. A large cohort study of GJB2 mutations in Japanese hearing loss patients.;K Tsukada;Clin Genet,2010
Cited by 64 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. Etiologic Diagnosis of Genetic Hearing Loss in an Ethnically Diverse Deafness Cohort;Audiology and Neurotology;2024-08-23
2. Genetic testing performed at clinic;AUDIOLOGY JAPAN;2024-06-30
3. Genetic Testing for Hearing Loss and Social Implementation;AUDIOLOGY JAPAN;2024-02-28
4. Low frequency of SLC26A4 c.919-2A > G variant among patients with nonsyndromic hearing loss in Yunnan of Southwest China;BMC Medical Genomics;2024-02-20
5. Hearing and Hearing Loss Progression in Patients with GJB2 Gene Mutations: A Long-Term Follow-Up;International Journal of Molecular Sciences;2023-11-25
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