Common recurrent microduplication syndromes: Diagnosis and management in clinical practice
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference99 articles.
1. 1.5 Mb de novo 22q11.21 microduplication in a patient with cognitive deficits and dysmorphic facial features;Alberti;Clin Genet,2007
2. Duplication of chromosome 15q11-13 in two individuals with autistic disorder;Baker;J Autism Dev Disord,1994
3. Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication;Ballif;Mol Cytogenet,2008
4. The inv dup (15) or idic (15) syndrome (tetrasomy 15q);Battaglia;Orphanet J Rare Dis,2008
5. Copy number variants and genetic traits: Closer to the resolution of phenotypic to genotypic variability;Beckmann;Nat Rev Genet,2007
Cited by 30 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. PARK2 Microdeletion or Duplications Have Been Implicated in Different Neurological Disorders Including Early Onset Parkinson Disease;Genes;2023-02-27
2. Short stature and growth hormone deficiency in a subset of patients with Potocki–Lupski syndrome: Expanding the phenotype of PTLS;American Journal of Medical Genetics Part A;2020-07-13
3. The Emerging Clinical Neuroscience of Autism Spectrum Disorder;JAMA Psychiatry;2018-05-01
4. Duplication 7 Syndrome;Encyclopedia of Clinical Neuropsychology;2018
5. Duplication 7 Syndrome;Encyclopedia of Clinical Neuropsychology;2017-11-20
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