Parental germline mosaicism in SCN3A-related severe developmental disorder-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Parental germline mosaicism in SCN3A-related severe developmental disorder

Published:2021-05 Issue:5 Volume:43 Page:669-670
ISSN:0387-7604
Container-title:Brain and Development
language:en
Short-container-title:Brain and Development

Author:

Inuzuka Luciana Midori,Macedo-Souza Lucia Inês,Guerra-Peixe Matheus,Cobas Pedreira Christiane,Della-Ripa Bruno,Souza Delgado Daniel,Monteiro Fabiola,Kitajima João Paulo,Garzon Eliana,Kok Fernando

Publisher

Elsevier BV

Subject

Clinical Neurology,Developmental Neuroscience,General Medicine,Pediatrics, Perinatology, and Child Health

Reference5 articles.

1. Neurodevelopmental disorder associated with de novo SCN3A pathogenic variants: two new cases and review of the literature;Inuzuka;Brain Dev,2020

3. Timing, rates and spectra of human germline mutation;Rahbari;Nat Genet,2016

4. Paternal germline mosaicism of a SCN2A mutation results in Ohtahara syndrome in half siblings;Zerem;Eur J Paediatric Neurol,2014

5. Mosaic SCN1A mutations in familial partial epilepsy with antecedent febrile seizures;Shi;Genes Brain Behav,2012

Cited by 1 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. Retrospective diagnosis by parental testing in the next generation sequencing era and utility of reanalysis of exome data;Prenatal Diagnosis;2023-04-03

同舟云学术

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