Multiplex Ligation-Dependent Probe Amplification to Subtelomeric Rearrangements in Idiopathic Intellectual Disability in Colombia
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical),Developmental Neuroscience,Neurology,Pediatrics, Perinatology and Child Health
Reference39 articles.
1. Global developmental delay and mental retardation or intellectual disability: conceptualization, evaluation, and etiology;Shevell;Pediatr Clin N Am,2008
2. Mental retardation and inborn errors of metabolism;García-Cazorla;J Inherit Metab Dis,2009
3. American Academy of Pediatrics Committee on Genetics. Clinical genetic evaluation of the child with mental retardation or developmental delays;Moeschler;Pediatrics,2006
4. Practice parameter: evaluation of the child with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society;Shevell;Neurology,2003
5. IQ predicts word decoding skills in populations with intellectual disabilities;Levy;Res Dev Disabil,2011
Cited by 5 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. Identification of chromosomal aberrations in a Costa Rican children population with idiopathicintellectual disability;POBLAC SALUD MESOAM;2022
2. Diagnostic Usefulness of MLPA Techniques for Recurrent Copy Number Variants Detection in Global Developmental Delay/Intellectual Disability;International Journal of General Medicine;2021-08
3. 8q22.2q22.3 Microdeletion Syndrome Associated with Hearing Loss and Intractable Epilepsy;Case Reports in Genetics;2019-01-10
4. Comparison of two subtelomeric assays for the screening of chromosomal rearrangements: analysis of 383 patients, literature review and further recommendations;Journal of Applied Genetics;2015-06-12
5. Detection of chromosomal imbalances using combined MLPA kits in patients with syndromic intellectual disability;Romanian Review of Laboratory Medicine;2014-01-01
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