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Nature Genetics, ISSN 1061-4036, 09/2012, Volume 44, Issue 9, pp. 1040 - 1045
Journal Article
Journal Article
Documenta Ophthalmologica, ISSN 0012-4486, 8/2018, Volume 137, Issue 1, pp. 57 - 62
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 01/2013, Volume 92, Issue 1, pp. 67 - 75
Journal Article
Journal Article
Journal Article
PLoS ONE, ISSN 1932-6203, 05/2015, Volume 10, Issue 5, pp. e0127319 - e0127319
Journal Article
Documenta Ophthalmologica, ISSN 0012-4486, 4/2018, Volume 136, Issue 2, pp. 135 - 143
CABP4-related retinal dysfunction is a cone–rod synaptic transmission disorder with electronegative electroretinogram (ERG) waveform. It is a rare retinal... 
Electroretinography | OCT | Medicine & Public Health | CABP4 | Hemeralopia | Multimodal fundus imaging | Ophthalmology | HIGH-HYPEROPIA | OPTICAL COHERENCE TOMOGRAPHY | PHENOTYPE | CLINICAL CHARACTERIZATION | POSTERIOR MICROPHTHALMOS | LEBER CONGENITAL AMAUROSIS | GENE | OPHTHALMOLOGY | MUTATIONS | STATIONARY NIGHT BLINDNESS | Retinal Diseases - genetics | Humans | Eye Diseases, Hereditary - diagnosis | Infant | Male | Myopia - diagnosis | Genetic Diseases, X-Linked - genetics | Retrospective Studies | Night Blindness - genetics | Genetic Diseases, X-Linked - physiopathology | Fluorescein Angiography | European Continental Ancestry Group - genetics | France - epidemiology | Retinal Diseases - diagnosis | Eye Diseases, Hereditary - physiopathology | Night Blindness - diagnosis | Tomography, Optical Coherence - methods | Visual Acuity | Genetic Diseases, X-Linked - diagnosis | Eye Diseases, Hereditary - genetics | Myopia - genetics | Myopia - physiopathology | Pedigree | Night Blindness - physiopathology | Mutation | Retinal Diseases - physiopathology | Fundus Oculi | Photoreceptor Cells, Vertebrate - pathology | Calcium-Binding Proteins - genetics | Medicine, Experimental | Medical research | Genetic disorders | Congenital diseases | Synaptic transmission | Blindness | Nystagmus | Tomography | Retina | Diagnosis | Nyctalopia | Stationary night blindness | Electroretinograms | Index Medicus
Journal Article