Detailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal Degeneration

Author:

Ku Cristy A.1,Hull Sarah2,Arno Gavin2,Vincent Ajoy3,Carss Keren4,Kayton Robert5,Weeks Douglas5,Anderson Glenn W.6,Geraets Ryan7,Parker Camille7,Pearce David A.8,Michaelides Michel2,MacLaren Robert E.9,Robson Anthony G.2,Holder Graham E.2,Heon Elise3,Raymond F. Lucy10,Moore Anthony T.11,Webster Andrew R.2,Pennesi Mark E.1

Affiliation:

1. Casey Eye Institute, Oregon Health & Science University, Portland

2. University College London Institute of Ophthalmology, London, England3Moorfields Eye Hospital, London, England

3. Department of Ophthalmology and Vision Sciences, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada

4. National Health Service Blood and Transplant Centre, Department of Haematology, University of Cambridge, Cambridge, England6National Institute for Health Research BioResource: Rare Diseases, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, England

5. Pathology Department, Oregon Health & Science University, Portland

6. Histopathology Department, Great Ormond Street Hospital for Children, London, England

7. Sanford Children’s Health Research Center, Sanford Research, Sioux Falls, South Dakota

8. Sanford Children’s Health Research Center, Sanford Research, Sioux Falls, South Dakota10Department of Pediatrics, Sanford School of Medicine, University of South Dakota, Sioux Falls

9. Moorfields Eye Hospital, London, England11Nuffield Laboratory of Ophthalmology, Department of Clinical Neurosciences, University of Oxford, Oxford, England12Oxford University Hospitals National Health Service Foundation Trust, Oxford, England

10. National Health Service Blood and Transplant Centre, Department of Haematology, University of Cambridge, Cambridge, England6National Institute for Health Research BioResource: Rare Diseases, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, England13Cambridge Institute for Medical Research, Department of Medical Genetics, University of Cambridge, Cambridge, England

11. University College London Institute of Ophthalmology, London, England3Moorfields Eye Hospital, London, England14Department of Ophthalmology, University of California, San Francisco Medical School, San Francisco

Publisher

American Medical Association (AMA)

Subject

Ophthalmology

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