Opportunities and Challenges for Molecular Understanding of Ciliopathies–The 100,000 Genomes Project
Author:
Funder
Wellcome Trust
Great Ormond Street Hospital Charity
Publisher
Frontiers Media SA
Subject
Genetics(clinical),Genetics,Molecular Medicine
Reference154 articles.
1. Non-invasive sources of cells with primary cilia from pediatric and adult patients;Ajzenberg;Cilia,2015
2. Systematic analysis of CCNO variants in a defined population: implications for clinical phenotype and differential diagnosis;Amirav;Hum. Mutat.,2016
3. National human genome projects: an update and an agenda;An;Epidemiol. Health,2017
4. Current insights into renal ciliopathies: what can genetics teach us?;Arts;Pediatr. Nephrol.,2013
5. Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity;Bachmann-Gagescu;J. Med. Genet.,2015
Cited by 71 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. Recent advances in the understanding of cilia mechanisms and their applications as therapeutic targets;Frontiers in Molecular Biosciences;2023-09-14
2. Phosphoinositides in New Spaces;Cold Spring Harbor Perspectives in Biology;2023-07-18
3. Experimental Models of Polycystic Kidney Disease: Applications and Therapeutic Testing;Kidney360;2023-07-07
4. Brain development mutations in the β-tubulin TUBB result in defective ciliogenesis;2023-05-28
5. Cilia-associated wound repair mediated by IFT88 in retinal pigment epithelium;Scientific Reports;2023-05-21
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