Shortening the diagnostic odyssey—the impact of whole genome sequencing in the NHS
Author:
Publisher
BMJ
Subject
General Engineering
Reference9 articles.
1. Mitochondrial DNA Mutation Associated with Leber's Hereditary Optic Neuropathy
2. Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies
3. The epidemiology of pathogenic mitochondrial DNA mutations
4. Mitochondrial Diseases: A Diagnostic Revolution
5. Whole-genome sequencing of patients with rare diseases in a national health system
Cited by 3 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. Characterizing Families of Pediatric Patients with Rare Diseases and Their Diagnostic Odysseys: A Comprehensive Survey Analysis from a Single Tertiary Center in Korea;Annals of Child Neurology;2024-07-01
2. Whole Genome Sequencing Will Reduce the Cost of Diagnostic Odyssey;Genetic Testing and Molecular Biomarkers;2022-11-01
3. Experiences of Families Caring for Children with Newborn Screening-Related Conditions: Implications for the Expansion of Genomics in Population-Based Neonatal Public Health Programs;International Journal of Neonatal Screening;2022-05-23
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