An audit of genetic testing in diagnosis of inherited retinal disorders: a prerequisite for gene-specific intervention
Author:
Publisher
Wiley
Subject
Ophthalmology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1442-9071.2009.02129.x/fullpdf
Reference19 articles.
1. Genetic testing for retinal dystrophies and dysfunctions: benefits, dilemmas and solutions;Koenekoop;Clin Experiment Ophthalmol,2007
2. Arrayed primer extension: solid-phase four-color DNA resequencing and mutation detection technology;Kurg;Genet Test,2000
3. The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations;Dharmaraj;Arch Ophthalmol,2004
4. An overview of Leber congenital amaurosis: a model to understand human retinal development;Koenekoop;Surv Ophthalmol,2004
5. Effect of gene therapy on visual function in Leber's congenital amaurosis;Bainbridge;N Engl J Med,2008
Cited by 15 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. Raman spectromics method for fast and label-free genotype screening;Biomedical Optics Express;2023-05-31
2. X-linked Retinoschisis and Gene Therapy;International Ophthalmology Clinics;2021
3. Exome Sequencing for Isolated Congenital Hearing Loss: A Cost‐Effectiveness Analysis;The Laryngoscope;2020-12-31
4. Next-generation sequencing targeted disease panel in rod-cone retinal dystrophies in Māori and Polynesian reveals novel changes and a common founder mutation;Clinical & Experimental Ophthalmology;2017-06-13
5. Patient attitudes towards prenatal diagnostic testing for inherited retinal disease;Prenatal Diagnosis;2015-07-16
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