What happens whenN = 1 and you want plus 1?
Author:
Affiliation:
1. Department of Biomedical Informatics; Harvard Medical School; Boston MA USA
2. School of Computing; University of Utah; Salt Lake City UT USA
3. NGLY1 Foundation; Salt Lake City UT USA
Publisher
Wiley
Subject
Genetics(clinical),Obstetrics and Gynaecology
Reference6 articles.
1. Clinical application of exome sequencing in undiagnosed genetic conditions;Need;J Med Genet,2015
2. Matthew Might Hunting down my son's killer http://matt.might.net/articles/my-sons-killer/ 2012
3. The shifting model in clinical diagnostics: how next-generation sequencing and families are altering the way rare diseases are discovered, studied, and treated;Might;Genet Med,2014
4. Seth Mnookin One of a kind: what do you do if your child has a condition that is new to science? The New Yorker 2014
5. Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation (ERAD) pathway;Enns;Genet Med,2014
Cited by 9 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. Comparative proteomics reveals elevated CCN2 in NGLY1-deficient cells;Biochemical and Biophysical Research Communications;2022-12
2. Opportunities and pitfalls of social media research in rare genetic diseases: a systematic review;Genetics in Medicine;2021-12
3. Strategies to Uplift Novel Mendelian Gene Discovery for Improved Clinical Outcomes;Frontiers in Genetics;2021-06-17
4. The undiagnosed diseases program: Approach to diagnosis;Translational Science of Rare Diseases;2020-04-13
5. N-Glycanase 1 Transcriptionally Regulates Aquaporins Independent of Its Enzymatic Activity;Cell Reports;2019-12
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