Additional clinical and molecular analyses ofTFAP2Ain patients with the branchio-oculo-facial syndrome
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference23 articles.
1. An ENU-induced mutation in AP-2alpha leads to middle ear and ocular defects in Doarad mice;Ahituv;Mamm Genome,2004
2. Basic local alignment search tool;Altschul;J Mol Biol,1990
3. SNAP predicts effect of mutations on protein function;Bromberg;Bioinformatics,2008
4. Accurate prediction of the functional significance of single nucleotide polymorphisms and mutations in the ABCA1 gene;Brunham;PLoS Genet,2005
5. The gene for branchio-oculo-facial syndrome does not colocalize to the EYA 1-4 genes;Correa-Cerro;J Med Genet,2000
Cited by 24 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. Rare variants found in clinical gene panels illuminate the genetic and allelic architecture of orofacial clefting;Genetics in Medicine;2023-10
2. Auricular fistula: a review of its clinical manifestations, genetics, and treatments;Journal of Molecular Medicine;2023-07-17
3. Cranial trephination and infectious disease in the Eastern Mediterranean: The evidence from two elite brothers from Late Bronze Megiddo, Israel;PLOS ONE;2023-02-22
4. A New Case and Comprehensive Review of the Ophthalmic Manifestations of 172 Individuals With Branchio-Oculo-Facial Syndrome;Journal of Pediatric Ophthalmology & Strabismus;2022-10-20
5. Rare variants found in clinical gene panels illuminate the genetic and allelic architecture of orofacial clefting;2022-08-23
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