المؤلفون: Bart P. Leroy, Fernanda Belga Ottoni Porto, Byron L. Lam, Robert K. Koenekoop, Jacque L. Duncan, Stephen R. Russell, Aniz Girach, David G. Birch

المصدر: Retina (Philadelphia, Pa.)
Retina (Philadelphia, Pa.), vol 41, iss 5

مصطلحات موضوعية: 0301 basic medicine, Pediatrics, DNA Mutational Analysis, Leber Congenital Amaurosis, Phases of clinical research, Cell Cycle Proteins, Disease, Review, Eye, Ophthalmology & Optometry, Blindness, Indirect costs, 0302 clinical medicine, Quality of life, cone-rod dystrophy, Early childhood, LCA10, Pediatric, Stem Cell Research - Induced Pluripotent Stem Cell - Human, Disease Management, General Medicine, childhood blindness, inherited retinal disease, CEP290, medicine.medical_specialty, Clinical Trials and Supportive Activities, 03 medical and health sciences, Rare Diseases, Antisense Oligonucleotide Therapy, Clinical Research, Opthalmology and Optometry, Antigens, Neoplasm, medicine, Genetics, Humans, Antigens, Eye Disease and Disorders of Vision, Health Services Needs and Demand, Stem Cell Research - Induced Pluripotent Stem Cell, business.industry, Neurosciences, DNA, medicine.disease, Leber congenital amaurosis, Stem Cell Research, Ophthalmology, Ciliopathy, Cytoskeletal Proteins, 030104 developmental biology, ciliopathy, 030221 ophthalmology & optometry, Neoplasm, c2991+1655A>G, business

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82b57206418cb0d77a5f7f6def2ad508
http://europepmc.org/articles/PMC8078118

المؤلفون: Maria Parker, William W. Hauswirth, Moataz M Razeen, Phyllis Summerfelt, Christine N. Kay, Joseph Carroll, Jeffrey D. Chulay, Laura R Erker, Alfredo Dubra, Brian P. Higgins, Paul Yang, Gerald A. Fishman, Byron L. Lam, David J. Wilson, Jing Zhang, Mark E. Pennesi, Frederick T Collison, Christopher S Langlo, Richard G. Weleber, Emily J. Patterson

المصدر: Retina (Philadelphia, Pa.)

مصطلحات موضوعية: 0301 basic medicine, Male, Fovea Centralis, Achromatopsia, Visual acuity, genetic structures, DNA Mutational Analysis, Visual Acuity, Color Vision Defects, 0302 clinical medicine, Foveal, cone photoreceptor, Medicine, Original Study, Longitudinal Studies, Child, medicine.diagnostic_test, imaging, General Medicine, gene therapy, medicine.anatomical_structure, Retinal Cone Photoreceptor Cells, Female, medicine.symptom, achromatopsia, Tomography, Optical Coherence, Adult, medicine.medical_specialty, Adolescent, Color vision, Cyclic Nucleotide-Gated Cation Channels, adaptive optics, Ophthalmoscopy, 03 medical and health sciences, Young Adult, Optical coherence tomography, Ophthalmology, Electroretinography, Humans, Outer nuclear layer, business.industry, DNA, medicine.disease, eye diseases, 030104 developmental biology, color vision, Mutation, 030221 ophthalmology & optometry, retinal degeneration, sense organs, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af235d238ffbf6579dc1d386b5fa53fd
http://europepmc.org/articles/PMC5537050