Next-generation sequencing approaches for the diagnosis of skeletal muscle disorders
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
Neurology (clinical),Neurology
Reference61 articles.
1. Sequencing technologies – the next generation;Metzker;Nat Rev Genet,2010
2. The 2015 version of the gene table of monogenic neuromuscular disorders (nuclear genome);Kaplan;Neuromuscul Disord,2014
3. Genetic basis of limb-girdle muscular dystrophies: the 2014 update;Nigro;Acta Myol,2014
4. Target-enrichment strategies for next-generation sequencing;Mamanova;Nat Methods,2010
5. Exome sequencing as a tool for Mendelian disease gene discovery;Bamshad;Nat Rev Genet,2011
Cited by 46 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. Combined sequence and copy number analysis improves diagnosis of limb girdle and other myopathies;Annals of Clinical and Translational Neurology;2023-09-08
2. Advances in Dystrophinopathy Diagnosis and Therapy;Biomolecules;2023-08-28
3. Targeted next‐generation sequencing determined a novel SGCG variant that is associated with limb‐girdle muscular dystrophy type 2C: A case report;Clinical Case Reports;2023-03
4. Distal myopathy;Motor System Disorders, Part I: Normal Physiology and Function and Neuromuscular Disorders;2023
5. The diversity of hereditary neuromuscular diseases: Experiences from molecular diagnosis;Journal of the Formosan Medical Association;2022-12
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