Genetic Counseling and Genome Sequencing in Pediatric Rare Disease
Author:
Publisher
Cold Spring Harbor Laboratory
Subject
General Biochemistry, Genetics and Molecular Biology
Reference90 articles.
1. Assessing an Interactive Online Tool to Support Parents' Genomic Testing Decisions
2. Stress levels and depressive symptoms in NICU mothers in the early postpartum period
3. McKusick's Online Mendelian Inheritance in Man (OMIM(R))
4. OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders
5. OMIM.org: leveraging knowledge across phenotype–gene relationships
Cited by 20 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. Refined preferences of prioritizers improve intelligent diagnosis for Mendelian diseases;Scientific Reports;2024-02-03
2. Should secondary pharmacogenomic variants be actively screened and reported when diagnostic genome-wide sequencing is performed in a child?;Genetics in Medicine;2024-02
3. The Lived Experience of Pediatric Gene Therapy: A Scoping Review;Human Gene Therapy;2023-12-01
4. Genetic counselling considerations with genetic/genomic testing in Neonatal and Pediatric Intensive Care Units: A scoping review;Clinical Genetics;2023-11-06
5. Drosophila CASK regulates brain size and neuronal morphogenesis, providing a genetic model of postnatal microcephaly suitable for drug discovery;Neural Development;2023-10-07
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