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Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy.Further Insights into the Ciliary Gene and Protein KIZ and Its Murine Ortholog PLK1S1 Mutated in Rod-Cone Dystrophy.A novel nonsense variant in REEP6 is involved in a sporadic rod-cone dystrophy case.MERTK mutations update in inherited retinal diseases.ARL2BP mutations account for 0.1% of autosomal recessive rod-cone dystrophies with the report of a novel splice variant.A Novel Heterozygous Missense Mutation in GNAT1 Leads to Autosomal Dominant Riggs Type of Congenital Stationary Night Blindness.Expanding the Mutation Spectrum in : Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt CohortPrevalence of ABCA4 Deep-Intronic Variants and Related Phenotype in An Unsolved "One-Hit" Cohort with Stargardt DiseaseGeneration of human induced pluripotent stem cell lines from a patient with ITM2B-related retinal dystrophy and a non mutated brotherPeripapillary Sparing With Near Infrared Autofluorescence Correlates With Electroretinographic Findings in Patients With Stargardt DiseaseWhole exome sequencing resolves complex phenotype and identifies CC2D2A mutations underlying non-syndromic rod-cone dystrophyLongitudinal Clinical Follow-up and Genetic Spectrum of Patients With Rod-Cone Dystrophy Associated With Mutations in PDE6A and PDE6B
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P50
description
researcher ORCID ID = 0000-0003-2532-4004
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wetenschapper
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Cécile Méjécase
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Cécile Méjécase
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Cécile Méjécase
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P21
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0000-0003-2532-4004