Bannayan–Riley–Ruvalcaba syndrome with posterior subcapsular congenital cataract and a consensus sequence splicing PTEN mutation
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.32086/fullpdf
Reference17 articles.
1. Different splicing defects lead to differential effects downstream of the lipid and protein phosphatase activities of PTEN
2. In-vitro-Kapselsackmodell zur Testung des Einflusses des Linsendesigns auf die Entstehung einer posterioren Kapselfibrose - eine In-vitro-Studie12
3. Bannayan–Riley–Ruvalcaba syndrome with reactive nodular lymphoid hyperplasia and autism and a PTEN mutation
4. Inherited macrocephaly-hamartoma syndromes
5. Will the real Cowden syndrome please stand up: revised diagnostic criteria
Cited by 11 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. Profiling and Integrated Analysis of the ERCC6-regulated circRNA-miRNA-mRNA Network in Lens Epithelial Cells;Current Eye Research;2021-03-16
2. PTENHamartoma tumor syndrome in childhood: A review of the clinical literature;American Journal of Medical Genetics Part C: Seminars in Medical Genetics;2019-10-14
3. Bannayan-Riley-Ruvalcaba Syndrome;Atlas of Genetic Diagnosis and Counseling;2017
4. Role of Pediatric Geneticists in Craniofacial Teams: The Identification of Craniofacial Conditions with Cancer Predisposition;The Journal of Pediatrics;2016-08
5. Bannayan-Riley-Ruvalcaba Syndrome;Atlas of Genetic Diagnosis and Counseling;2015
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