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American Journal of Ophthalmology, ISSN 0002-9394, 10/2017, Volume 182, pp. 81 - 89
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Journal Article
Graefe's Archive for Clinical and Experimental Ophthalmology, ISSN 0721-832X, 02/2019, Volume 257, Issue 2, pp. 273 - 278
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Journal Article
Documenta Ophthalmologica, ISSN 0012-4486, 8/2018, Volume 137, Issue 1, pp. 25 - 36
Joubert syndrome (JS) is an inherited autosomal recessive or X-lined disorder characterized by a congenital malformation of the mid-hindbrain and a large... 
Ophthalmology | Medicine & Public Health | Retinal dystrophy | Joubert syndrome | Spectral domain-OCT | Macular staphyloma | INPP5E MUTATIONS | CILIOPATHIES | OPHTHALMOLOGY | DISORDERS | AHI1 GENE | MOLAR TOOTH | SIGNALING CENTER | PRIMARY CILIUM | Kidney Diseases, Cystic - diagnosis | Humans | Male | Mutation, Missense | Cerebellum - abnormalities | Young Adult | Retinal Diseases - etiology | Evoked Potentials, Visual | Adult | Female | Child | Dilatation, Pathologic | Macula Lutea - pathology | Electroretinography | Eye Abnormalities - diagnosis | Phosphoric Monoester Hydrolases - genetics | Retinal Diseases - diagnosis | Retina - physiopathology | Tomography, Optical Coherence - methods | Visual Acuity | Retinal Dystrophies - physiopathology | Macula Lutea - diagnostic imaging | Magnetic Resonance Imaging | Retinal Dystrophies - diagnosis | Abnormalities, Multiple - diagnosis | Adaptor Proteins, Signal Transducing - genetics | Adolescent | Retina - abnormalities | Kidney Diseases, Cystic - complications | High-Throughput Nucleotide Sequencing | Retinal Dystrophies - complications | Eye Abnormalities - complications | Retinal degeneration | Medicine, Experimental | Medical research | Birth defects | Analysis | Resveratrol | Brain | Edema | Congenital defects | Teeth | Electrophysiology | Retina | Visual evoked potentials | Neurodevelopmental disorders | Patients | Genetic screening | Hereditary diseases | Acuity | Electroretinograms | Eye | Magnetic resonance imaging | Hindbrain | Dystrophy | Siblings | Index Medicus
Journal Article