Dominant and recessive SLC12A2‐syndrome

基础(证据) 医学 图书馆学 历史 考古 计算机科学
作者
Alisdair McNeill,Paul Aurora,Kaukab Rajput,Robert Nash,Karen Stals,Hannah K. Robinson,Emma Wakeling
出处
期刊:American Journal of Medical Genetics [Wiley]
卷期号:188 (3): 996-999 被引量:2
标识
DOI:10.1002/ajmg.a.62573
摘要

American Journal of Medical Genetics Part AEarly View RESEARCH LETTER Dominant and recessive SLC12A2-syndrome Alisdair McNeill, Corresponding Author Alisdair McNeill a.mcneill@sheffield.ac.uk orcid.org/0000-0001-5702-3631 Department of Neuroscience, The University of Sheffield, Sheffield, UK Clinical Genetics, Sheffield Children's Hospital NHS Foundation Trust, Sheffield, UK Correspondence Alisdair McNeill, Department of Neuroscience, The University of Sheffield, Sheffield S10 2TN, UK. Email: a.mcneill@sheffield.ac.ukSearch for more papers by this authorPaul Aurora, Paul Aurora Department of Audiological Medicine, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UKSearch for more papers by this authorKaukab Rajput, Kaukab Rajput Department of Audiological Medicine, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UKSearch for more papers by this authorRobert Nash, Robert Nash Department of Audiological Medicine, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UKSearch for more papers by this authorKaren Stals, Karen Stals Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UKSearch for more papers by this authorHannah Robinson, Hannah Robinson Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UKSearch for more papers by this authorEmma Wakeling, Emma Wakeling North East Thames Regional Genetic Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UKSearch for more papers by this author Alisdair McNeill, Corresponding Author Alisdair McNeill a.mcneill@sheffield.ac.uk orcid.org/0000-0001-5702-3631 Department of Neuroscience, The University of Sheffield, Sheffield, UK Clinical Genetics, Sheffield Children's Hospital NHS Foundation Trust, Sheffield, UK Correspondence Alisdair McNeill, Department of Neuroscience, The University of Sheffield, Sheffield S10 2TN, UK. Email: a.mcneill@sheffield.ac.ukSearch for more papers by this authorPaul Aurora, Paul Aurora Department of Audiological Medicine, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UKSearch for more papers by this authorKaukab Rajput, Kaukab Rajput Department of Audiological Medicine, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UKSearch for more papers by this authorRobert Nash, Robert Nash Department of Audiological Medicine, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UKSearch for more papers by this authorKaren Stals, Karen Stals Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UKSearch for more papers by this authorHannah Robinson, Hannah Robinson Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UKSearch for more papers by this authorEmma Wakeling, Emma Wakeling North East Thames Regional Genetic Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UKSearch for more papers by this author First published: 19 November 2021 https://doi.org/10.1002/ajmg.a.62573 Funding information: Baily-Thomas Charitable Foundation, Grant/Award Number: TRUST/VC/AC/SG/5399-8436; University College London; National Institute for Health Research Biomedical Research Centre at Great Ormond Street Hospital for Children (GOSH) NHS Foundation Trust Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat Early ViewOnline Version of Record before inclusion in an issue RelatedInformation
最长约 10秒,即可获得该文献文件

科研通智能强力驱动
Strongly Powered by AbleSci AI
更新
大幅提高文件上传限制,最高150M (2024-4-1)

科研通是完全免费的文献互助平台,具备全网最快的应助速度,最高的求助完成率。 对每一个文献求助,科研通都将尽心尽力,给求助人一个满意的交代。
实时播报
闾丘翠琴完成签到,获得积分10
刚刚
科目三应助科研通管家采纳,获得10
2秒前
cctv18应助科研通管家采纳,获得20
2秒前
cctv18应助科研通管家采纳,获得10
2秒前
cctv18应助科研通管家采纳,获得10
2秒前
852应助科研通管家采纳,获得10
2秒前
华仔应助科研通管家采纳,获得20
2秒前
我是老大应助科研通管家采纳,获得10
2秒前
情怀应助科研通管家采纳,获得10
2秒前
3秒前
大模型应助陆冰之采纳,获得10
4秒前
咚咚应助东东采纳,获得10
5秒前
在水一方应助超人采纳,获得10
5秒前
6秒前
cocolu应助海不扬波采纳,获得10
8秒前
cocolu应助海不扬波采纳,获得10
8秒前
8秒前
8秒前
corner发布了新的文献求助10
11秒前
韩大大完成签到,获得积分10
11秒前
枝念之年完成签到 ,获得积分20
12秒前
14秒前
14秒前
16秒前
方越应助锐哥采纳,获得10
18秒前
19秒前
22秒前
22秒前
12345发布了新的文献求助10
22秒前
科研搬运工完成签到,获得积分10
23秒前
小孙完成签到,获得积分10
24秒前
27秒前
28秒前
充电宝应助CCCC采纳,获得10
29秒前
碗碗完成签到,获得积分10
29秒前
wang发布了新的文献求助10
31秒前
KKK发布了新的文献求助10
31秒前
超人完成签到,获得积分10
31秒前
32秒前
33秒前
高分求助中
Mantiden: Faszinierende Lauerjäger Faszinierende Lauerjäger Heßler, Claudia, Rud 1000
PraxisRatgeber: Mantiden: Faszinierende Lauerjäger 1000
Natural History of Mantodea 螳螂的自然史 1000
A Photographic Guide to Mantis of China 常见螳螂野外识别手册 800
Autoregulatory progressive resistance exercise: linear versus a velocity-based flexible model 500
Spatial Political Economy: Uneven Development and the Production of Nature in Chile 400
Research on managing groups and teams 300
热门求助领域 (近24小时)
化学 医学 生物 材料科学 工程类 有机化学 生物化学 物理 内科学 纳米技术 计算机科学 化学工程 复合材料 基因 遗传学 物理化学 催化作用 细胞生物学 免疫学 冶金
热门帖子
关注 科研通微信公众号,转发送积分 3330222
求助须知:如何正确求助?哪些是违规求助? 2959796
关于积分的说明 8597036
捐赠科研通 2638227
什么是DOI,文献DOI怎么找? 1444215
科研通“疑难数据库(出版商)”最低求助积分说明 669074
邀请新用户注册赠送积分活动 656613