Panel-Based Nuclear and Mitochondrial Next-Generation Sequencing Outcomes of an Ethnically Diverse Pediatric Patient Cohort with Mitochondrial Disease
Author:
Funder
Medical Research Council of South Africa
Publisher
Elsevier BV
Subject
Molecular Medicine,Pathology and Forensic Medicine
Reference73 articles.
1. Mitochondrial genetics;Chinnery;Br Med Bull,2013
2. Sequence and organization of the human mitochondrial genome;Anderson;Nature,1981
3. Mitochondrial diseases;Gorman;Nat Rev Dis Primers,2016
4. A guideline for the diagnosis of pediatric mitochondrial disease: the value of muscle and skin biopsies in the genetics era;Wortmann;Neuropediatrics,2017
5. Whole exome sequencing of suspected mitochondrial patients in clinical practice;Wortmann;J Inherit Metab Dis,2015
Cited by 12 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. STAC3 disorder: a common cause of congenital hypotonia in Southern African patients;European Journal of Human Genetics;2024-06-01
2. The implementation and utility of clinical exome sequencing in a South African infant cohort;Frontiers in Genetics;2023-11-09
3. A case for genomic medicine in South African paediatric patients with neuromuscular disease;Frontiers in Pediatrics;2022-11-17
4. Whole exome sequencing is an alternative method in the diagnosis of mitochondrial DNA diseases;Molecular Genetics & Genomic Medicine;2022-04-07
5. Clinical, pathological and genetic features and follow-up of 110 patients with late-onset MADD: a single-center retrospective study;Human Molecular Genetics;2021-10-27
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