Development of a Diagnostic Genetic Test for Simplex and Autosomal Recessive Retinitis Pigmentosa-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Development of a Diagnostic Genetic Test for Simplex and Autosomal Recessive Retinitis Pigmentosa

Published:2010-11 Issue:11 Volume:117 Page:2169-2177.e3
ISSN:0161-6420
Container-title:Ophthalmology
language:en
Short-container-title:Ophthalmology

Author:

Clark Graeme Richard,Crowe Paul,Muszynska Dorota,O'Prey Dominic,O'Neill Justin,Alexander Sharon,Willoughby Colin Eric,McKay Gareth John,Silvestri Giuliana,Simpson David Arthur

Publisher

Elsevier BV

Subject

Ophthalmology

Cited by 40 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. Consanguinity-based analysis of exome sequencing yields likely genetic causes in patients with inherited retinal dystrophy;Orphanet Journal of Rare Diseases;2021-06-15

2. Spectrum-frequency and genotype–phenotype analysis of rhodopsin variants;Experimental Eye Research;2021-02

3. Genetic Variants and Impact in PDE6B Rod-Cone Dystrophy;Essentials in Ophthalmology;2021

4. Genetic and Clinical Findings in an Ethnically Diverse Cohort with Retinitis Pigmentosa Associated with Pathogenic Variants in CERKL;Genes;2020-12-12

5. Characterization ofCRB1splicing in retinal organoids derived from a patient with adult‐onset rod‐cone dystrophy caused by the c.1892A>G and c.2548G>A variants;Molecular Genetics & Genomic Medicine;2020-09-15

同舟云学术

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