Identification of the DNA Repair Defects in a Case of Dubowitz Syndrome
Author:
Publisher
Public Library of Science (PLoS)
Subject
Multidisciplinary
Reference36 articles.
1. Familial Low Birthweight Dwarfism with an Unusual Facies and a Skin Eruption;V Dubowitz;J Med Genet,1965
2. The Dubowitz syndrome;R Grosse;Z Kinderheilkd,1971
3. Studies of malformation syndromes of man XXIV B: the Dubowitz syndrome. Further observations;JM Opitz;Z Kinderheilkd,1973
4. Dubowitz syndrome: review of 141 cases including 36 previously unreported patients;M Tsukahara;Am J Med Genet,1996
5. Dubowitz syndrome: a review and implications for cognitive, behavioral, and psychological features;RS Huber;J Clin Med Res,2011
Cited by 35 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. BRCT domains as chromatin readers: Structure, function, and clinical implications;Chromatin Readers in Health and Disease;2024
2. Autoimmunity and immunodeficiency associated with monoallelic LIG4 mutations via haploinsufficiency;Journal of Allergy and Clinical Immunology;2023-08
3. Research models of neurodevelopmental disorders: The right model in the right place;Frontiers in Neuroscience;2022-10-20
4. Characterization of a Cohort of Patients With LIG4 Deficiency Reveals the Founder Effect of p.R278L, Unique to the Chinese Population;Frontiers in Immunology;2021-09-24
5. Endocrinological features of a patient with 14q microdeletion and Dubowitz phenotype;Molecular Genetics & Genomic Medicine;2021-03-31
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