Koolen-de Vries syndrome: A de novo missense KANSL1 variant
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical),General Medicine,Surgery
Reference5 articles.
1. The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant;Koolen;EJHG,2016
2. The epileptology of Koolen-de Vries syndrome: electro-clinico-radiologic findings in 31 patients;Myers;Epilepsia,2017
3. Molecular characterization of Koolen De Vries syndrome in two girls with idiopathic intellectual disability from central Brazil;Nascimento;Mol. Syndr.,2017
4. Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients;Zollino;J. Med Genet,2015
5. Clinical utility of multigene panel testing in adults with epilepsy and intellectual disability;Borlot;Epilepsia,2019
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