Evaluation of the Validity and Utility of Genetic Testing for Rare Diseases
Author:
Publisher
Springer Netherlands
Link
http://link.springer.com/content/pdf/10.1007/978-90-481-9485-8_8
Reference83 articles.
1. Almqvist EW, Brinkman RR, Wiggins S, et al (2003) Psychological consequences and predictors of adverse events in the first 5 years after predictive testing for Huntington’s disease. Clin Genet 64:300–309
2. Al-Mulla F, Bland JM, Serratt D, et al (2009) Age-dependent penetrance of different germline mutations in the BRCA1 gene. J Clin Pathol 62:350–356
3. Bailey DB Jr, Raspa M, Olmsted M, et al (2008) Co-occurring conditions associated with FMR1 gene variations: findings from a national parent survey. Am J Med Genet A 146A:2060–2069
4. Bailey DB Jr, Skinner D, Davis AM, et al (2008) Ethical, legal, and social concerns about expanded newborn screening: fragile X syndrome as a prototype for emerging issues. Pediatrics 121:e693–704
5. Bonini P, Plebani M, Ceriotti F, et al (2002) Errors in laboratory medicine. Clin Chem 48:691–698
Cited by 50 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. Artificial intelligence and database for NGS-based diagnosis in rare disease;Frontiers in Genetics;2024-01-25
2. Return of non-ACMG recommended incidental genetic findings to pediatric patients: considerations and opportunities from experiences in genomic sequencing;Genome Medicine;2022-11-21
3. Ethical Concerns of Direct-to-Consumer Genetic Tests;TalTech Journal of European Studies;2022-05-01
4. Ethical problems of genetic testing for hereditary cardiovascular diseases;The Siberian Journal of Clinical and Experimental Medicine;2022-01-01
5. An Overview of the Human Genome;Human Genome Structure, Function and Clinical Considerations;2021
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