Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa

Author:

Vogt Guido12ORCID,El Choubassi Naji12ORCID,Herczegfalvi Ágnes3,Kölbel Heike4,Lekaj Anja1,Schara Ulrike4,Holtgrewe Manuel5ORCID,Krause Sabine6ORCID,Horvath Rita7,Schuelke Markus8ORCID,Hübner Christoph8,Mundlos Stefan12ORCID,Roos Andreas49,Lochmüller Hanns91011ORCID,Karcagi Veronika1213,Kornak Uwe1214ORCID,Fischer‐Zirnsak Björn12ORCID

Affiliation:

1. Institut für Medizinische Genetik und Humangenetik, Charité ‐ Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt Universität zu Berlin, and Berlin Institute of Health Berlin Germany

2. Max Planck Institute for Molecular Genetics, RG Development & Disease Berlin Germany

3. Department of Pediatric Neurology Semmelweis Medical University, II. Pediatric Clinic Budapest Hungary

4. Department of Pediatric Neurology University Hospital Essen, University Duisburg‐Essen Essen Germany

5. CUBI – Core Unit Bioinformatics Berlin Institute of Health Berlin Germany

6. Friedrich‐Baur‐Institute, Department of Neurology Ludwig‐Maximilians‐University of Munich Munich Germany

7. Department of Clinical Neurosciences University of Cambridge, Cambridge Biomedical Campus Cambridge UK

8. Department of Neuropediatrics, Charité‐Universitätsmedizin Berlin corporate member of Freie Universität Berlin, Humboldt‐Universität zu Berlin, and Berlin Institute of Health Berlin Germany

9. Children's Hospital of Eastern Ontario Research Institute University of Ottawa Ottawa Ontario Canada

10. Division of Neurology, Department of Medicine, The Ottawa Hospital Ottawa Canada

11. Brain and Mind Research Institute University of Ottawa Ottawa Canada

12. NIEH, Department of Molecular Genetics and Diagnostics Budapest Hungary

13. Istenhegyi Genetic Diagnostic Centre Budapest Hungary

14. Institute of Human Genetics University Medical Center Göttingen Göttingen Germany

Funder

Deutsche Forschungsgemeinschaft

Medical Research Council Canada

Canada Foundation for Innovation

Canadian Institutes of Health Research

National Human Genome Research Institute

Publisher

Wiley

Subject

Genetics(clinical),Genetics

同舟云学术

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