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The American Journal of Human Genetics, ISSN 0002-9297, 02/2012, Volume 90, Issue 2, pp. 331 - 339
Complete congenital stationary night blindness (cCSNB) is a clinically and genetically heterogeneous group of retinal disorders characterized by nonprogressive... 
COMPLETE FORM | LIGHT RESPONSE | CHANNEL | MGLUR6 | SYNAPTIC-TRANSMISSION | MOUSE MODEL | GENETICS & HEREDITY | NYCTALOPIN | RICH REPEAT PROTEIN | MUTATIONS | CONE ELECTRORETINOGRAM | Electroretinography - methods | Night Blindness - metabolism | Humans | Dark Adaptation - genetics | Retinal Rod Photoreceptor Cells - metabolism | Gene Knockdown Techniques - methods | Myopia - metabolism | Receptors, Metabotropic Glutamate - genetics | Retinal Bipolar Cells - physiology | Chromosome Mapping - methods | Genetic Diseases, X-Linked | Night Blindness - genetics | Retinal Bipolar Cells - metabolism | Eye Diseases, Hereditary | Signal Transduction | Mice, Inbred C57BL | Zebrafish | Mice, Inbred C3H | Myopia - genetics | Animals | Myopia - physiopathology | Pedigree | Night Blindness - physiopathology | Retinal Rod Photoreceptor Cells - physiology | Heterozygote | Mice | Receptors, G-Protein-Coupled - genetics | Mutation | Chromosome mapping | Usage | Gene mutations | Retinal bipolar cells | Causes of | Physiological aspects | Night blindness | Genetic aspects | Research | Analysis | Genetic disorders | Proteins | Rodents | Blindness | Gene expression | Cells | Index Medicus | Animal models | Antibodies | Insertion | stationary night blindness | Retina | Guanine nucleotide-binding protein | Electroretinograms | Depolarization | Signal transduction | Vision | Bipolar cells | Gene mapping | DNA sequencing | Report
Journal Article
Journal Article
Journal Article
Journal Article
Ophthalmology, ISSN 0161-6420, 12/2018, Volume 125, Issue 12, pp. 1953 - 1960
To describe the phenotypic spectrum of a large cohort of albino patients, to investigate the relationship between the ocular abnormalities and the visual... 
INFANTILE NYSTAGMUS | ASYMMETRY | OPTICAL COHERENCE TOMOGRAPHY | OCULOCUTANEOUS ALBINISM | CONGENITAL NYSTAGMUS | OPHTHALMOLOGY | FOVEAL HYPOPLASIA | PREVALENCE | BIRTH | MUTATION SPECTRUM | Albinism
Journal Article
Graefe s archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie, ISSN 0721-832X, 2013, Volume 251, Issue 1, pp. 221 - 234
Journal Article
Journal Article
Journal Article
Retina, ISSN 0275-004X, 2017
PURPOSE: To evaluate the long-term clinical course and visual outcome of patients with choroideremia. METHODS: Clinical examination, a social questionnaire,... 
Journal Article
Retina (Philadelphia, Pa.), ISSN 0275-004X, 2017
To evaluate the long-term clinical course and visual outcome of patients with choroideremia. Clinical examination, a social questionnaire, and medical records... 
Journal Article
Ophthalmology, ISSN 0161-6420, 2013, Volume 120, Issue 4, pp. 809 - 820
Objective To describe the clinical and genetic characteristics of patients with autosomal recessive bestrophinopathy (ARB). Design Retrospective case series.... 
Ophthalmology | Neurosciences
Journal Article
PLoS ONE, ISSN 1932-6203, 2013, Volume 8, Issue 1, pp. e51622 - e51622
Journal Article
Ophthalmology, ISSN 0161-6420, 2017, Volume 124, Issue 6, pp. 884 - 895
Journal Article