Detailed Clinical Phenotype and Molecular Genetic Findings in <i>CLN3</i>-Associated Isolated Retinal Degeneration
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- Cristy A. Ku
- Casey Eye Institute, Oregon Health & Science University, Portland
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- Sarah Hull
- University College London Institute of Ophthalmology, London, England3Moorfields Eye Hospital, London, England
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- Gavin Arno
- University College London Institute of Ophthalmology, London, England3Moorfields Eye Hospital, London, England
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- Ajoy Vincent
- Department of Ophthalmology and Vision Sciences, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada
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- Keren Carss
- 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
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- Robert Kayton
- Pathology Department, Oregon Health & Science University, Portland
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- Douglas Weeks
- Pathology Department, Oregon Health & Science University, Portland
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- Glenn W. Anderson
- Histopathology Department, Great Ormond Street Hospital for Children, London, England
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- Ryan Geraets
- Sanford Children’s Health Research Center, Sanford Research, Sioux Falls, South Dakota
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- Camille Parker
- Sanford Children’s Health Research Center, Sanford Research, Sioux Falls, South Dakota
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- David A. Pearce
- Sanford Children’s Health Research Center, Sanford Research, Sioux Falls, South Dakota10Department of Pediatrics, Sanford School of Medicine, University of South Dakota, Sioux Falls
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- Michel Michaelides
- University College London Institute of Ophthalmology, London, England3Moorfields Eye Hospital, London, England
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- Robert E. MacLaren
- 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
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- Anthony G. Robson
- University College London Institute of Ophthalmology, London, England3Moorfields Eye Hospital, London, England
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- Graham E. Holder
- University College London Institute of Ophthalmology, London, England3Moorfields Eye Hospital, London, England
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- Elise Heon
- Department of Ophthalmology and Vision Sciences, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada
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- F. Lucy Raymond
- 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
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- Anthony T. Moore
- University College London Institute of Ophthalmology, London, England3Moorfields Eye Hospital, London, England14Department of Ophthalmology, University of California, San Francisco Medical School, San Francisco
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- Andrew R. Webster
- University College London Institute of Ophthalmology, London, England3Moorfields Eye Hospital, London, England
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- Mark E. Pennesi
- Casey Eye Institute, Oregon Health & Science University, Portland
収録刊行物
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- JAMA Ophthalmology
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JAMA Ophthalmology 135 (7), 749-, 2017-07-01
American Medical Association (AMA)
