Eponym
Author:
Publisher
Springer Science and Business Media LLC
Subject
Pediatrics, Perinatology, and Child Health
Link
http://link.springer.com/content/pdf/10.1007/s00431-010-1240-5.pdf
Reference34 articles.
1. Al-Dosari MS, Al-Muhsen S, Al-Jazaeri A et al (2008) Johanson-Blizzard syndrome: report of a novel mutation and severe liver involvement. Am J Med Genet 146A:1875–1879
2. Alkhouri N, Kaplan B, Kay M et al (2008) Johanson-Blizzard syndrome with mild phenotypic features confirmed by UBR1 gene testing. World J Gastroenterol 14:6863–6866
3. Braun J, Lerner A, Gershoni-Baruch R (1991) The temporal bone in the Johanson-Blizzard syndrome. A CT study. Pediatr Radiol 21:580–583
4. Cheung JC, Thomson H, Buncic JR et al (2009) Ocular manifestations of the Johanson-Blizzard syndrome. J AAPOS 13:512–514
5. Ciechanover A, Iwai K (2004) The ubiquitin system: from basic mechanisms to the patient bed. IUBMB life 56:193–201
Cited by 23 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. Johanson-Blizzard Syndrome: A Case Report From Bahrain With a Literature Review;Cureus;2024-03-11
2. Johanson–Blizzard syndrome caused by novel UBR1 mutation in four Saudi patients;JPGN Reports;2024-03
3. Clinical manifestation of Johanson-Blizzard syndrome in patient with nucleotide variants in UBR1 gene;Vojnosanitetski pregled;2023
4. Perioperative Care of the Adult Patient with Johanson-Blizzard Syndrome;Open Journal of Anesthesiology;2023
5. Atypical Neuropsychological profile in a patient with Johanson-Blizzard Syndrome;CUAD NEUROPSICOL;2022
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