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PLoS ONE, ISSN 1932-6203, 07/2018, Volume 13, Issue 7, pp. e0200789 - e0200789
Journal Article
Scientific Reports, ISSN 2045-2322, 12/2018, Volume 8, Issue 1, pp. 9675 - 10
Journal Article
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, ISSN 0146-0404, 05/2019, Volume 60, Issue 6, pp. 2049 - 2063
PURPOSE. To assess the phenotypic variability and natural course of inherited retinal diseases (IRDs) caused by EYS mutations. METHODS. Multiethnic cohort... 
ORTHOLOG | RECESSIVE RETINITIS-PIGMENTOSA | macular dystrophy | IDENTIFICATION | inherited retinal disease | GENE | retinitis pigmentosa | OPHTHALMOLOGY | cone-rod dystrophy | MUTATIONS | JAPANESE PATIENTS | EYS | PROGRESSION
Journal Article
BBA - Molecular Basis of Disease, ISSN 0925-4439, 07/2014, Volume 1842, Issue 7, p. 1010
De novo mutations in ATP1A3, the gene encoding the [alpha]3-subunit of Na.sup.+,K.sup.+-ATPase, are associated with the neurodevelopmental disorder Alternating... 
Ouabain | Hemiplegia | Genetic aspects | Adenosine triphosphatase
Journal Article
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