Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders
Author:
Publisher
BMJ
Subject
Genetics(clinical),Genetics
Reference48 articles.
1. Congenital muscular dystrophies: new aspects of an expanding group of disorders;Lisi;Biochim Biophys Acta,2007
2. Consensus statement on standard of care for congenital muscular dystrophies;Wang;J Child Neurol,2010
3. Consensus statement on standard of care for congenital myopathies;Wang;J Child Neurol,2012
4. Prevalence of congenital myopathies in a representative pediatric United States population;Amburgey;Ann Neurol,2011
5. The prevalence of inherited neuromuscular disease in Northern Ireland;Hughes;Neuromuscul Disord,1996
Cited by 96 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. Exome sequencing revealed variants in SGCA and SIL1 genes underlying limb girdle muscular dystrophy and Marinesco–Sjögren syndrome patients;Molecular Biology Reports;2024-07-26
2. Application of whole exome sequencing in the diagnosis of muscular disorders: a study of Taiwanese pediatric patients;Frontiers in Genetics;2024-05-15
3. Clinical Utility and Diagnostic Yield of Genetic Testing for Inherited Neuromuscular Disorders in a Single, Large Neuromuscular Center;Neurology Clinical Practice;2024-04
4. Early versus late diagnosis of LAMA2 congenital muscular dystrophy: a distinct consequence;The Egyptian Journal of Neurology, Psychiatry and Neurosurgery;2024-01-05
5. Pediatric Neuromuscular Diseases;Pediatric Neurology;2023-12
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