Complete uniparental disomy of chromosome 1 in a child with isolated developmental delay
Author:
Affiliation:
1. Department of Biology Drew University Madison New Jersey USA
2. Pediatric Neurology, Sutter Medical Center Sacramento California USA
3. Integrated Genetics Monrovia California USA
Publisher
Wiley
Subject
General Medicine
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ccr3.5956
Reference11 articles.
1. Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG)
2. Prenatal testing for uniparental disomy: indications and clinical relevance
3. A novel homozygous mutation of GJC2 derived from maternal uniparental disomy in a female patient with Pelizaeus–Merzbacher-like disease
4. Maternal Uniparental Disomy of Chromosome 1 with No Apparent Phenotypic Effects
5. Uniparental Disomy (UPD) in Clinical Genetics
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