Interpretation of genomic sequence variants in heritable skin diseases: A primer for clinicians
Author:
Funder
Dystrophic Epidermolysis Bullosa Research Association
National Institutes of Health
Publisher
Elsevier BV
Subject
Dermatology
Reference21 articles.
1. Practice and educational gaps in genodermatoses;Schaffer;Dermatol Clin,2016
2. Phenotypic spectrum of epidermolysis bullosa: the paradigm of syndromic versus non-syndromic skin fragility disorders;Vahidnezhad;J Invest Dermatol,2019
3. The human genome project: lessons from large-scale biology;Collins;Science,2003
4. Lack of type VII collagen in unaffected skin of patients with severe recessive dystrophic epidermolysis bullosa;Bruckner-Tuderman;Dermatologica,1988
5. Strategy for identification of sequence variants in COL7A1 and a novel 2-bp deletion mutation in recessive dystrophic epidermolysis bullosa;Christiano;Hum Mutat,1997
Cited by 10 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. Whole-exome sequencing enables rapid and prenatal diagnosis of inherited skin disorders;BMC Medical Genomics;2023-08-21
2. Whole transcriptome–based skin virome profiling in typical epidermodysplasia verruciformis reveals α-, β-, and γ-HPV infections;JCI Insight;2023-03-08
3. Clinical and molecular diagnosis of genodermatoses: Review and perspectives;Journal of the European Academy of Dermatology and Venereology;2022-12-11
4. Stairways to Advanced Therapies for Epidermolysis Bullosa;Cold Spring Harbor Perspectives in Biology;2022-09-27
5. Inherited ichthyosis as a paradigm of rare skin disorders: Genomic medicine, pathogenesis, and management;Journal of the American Academy of Dermatology;2022-08
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