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1 Ergebnisse
1
Leber Congenital Amaurosis Associated with Mutations in CEP..:
Sheck, Leo
;
Davies, Wayne IL
;
Moradi, Phillip
...
qt80z2j71b. , 2018
Link:
https://escholarship.org/uc/item/80z2j71b
RT Journal T1
Leber Congenital Amaurosis Associated with Mutations in CEP290, Clinical Phenotype, and Natural History in Preparation for Trials of Novel Therapies
UL https://suche.suub.uni-bremen.de/peid=base-ftcdlib:oai:escholarship.org:ark:_13030_qt80z2j71b&Exemplar=1&LAN=DE A1 Sheck, Leo A1 Davies, Wayne IL A1 Moradi, Phillip A1 Robson, Anthony G A1 Kumaran, Neruban A1 Liasis, Alki C A1 Webster, Andrew R A1 Moore, Anthony T A1 Michaelides, Michel PB eScholarship, University of California YR 2018 K1 Biomedical and Clinical Sciences K1 Ophthalmology and Optometry K1 Clinical Research K1 Rare Diseases K1 Pediatric K1 Genetics K1 Eye Disease and Disorders of Vision K1 Biomedical Imaging K1 Neurosciences K1 Neurodegenerative K1 2.1 Biological and endogenous factors K1 Aetiology K1 Eye K1 Adolescent K1 Adult K1 Antigens K1 Neoplasm K1 Cell Cycle Proteins K1 Child K1 Preschool K1 Clinical Trials as Topic K1 Cytoskeletal Proteins K1 DNA Mutational Analysis K1 Electroretinography K1 Female K1 Follow-Up Studies K1 Humans K1 Introns K1 Leber Congenital Amaurosis K1 Male K1 Middle Aged K1 Molecular Diagnostic Techniques K1 Mutation K1 Neoplasm Proteins K1 Optical Imaging K1 Phenotype K1 Retrospective Studies K1 Tomography K1 Optical Coherence K1 Visual Acuity K1 Clinical Sciences K1 Opthalmology and Optometry K1 Public Health and Health Services K1 Ophthalmology & Optometry JF qt80z2j71b LK http://dx.doi.org/https://escholarship.org/uc/item/80z2j71b DO https://escholarship.org/uc/item/80z2j71b SF ELIB - SuUB Bremen
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