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Elevated plasma complement factors in CRB1-associated inherited retinal dystrophies
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- Journal Article
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Outcome of cataract surgery in patients with retinitis pigmentosa
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- Journal Article
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X-linked Retinoschisis : novel clinical observations and genetic spectrum in 340 patients
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- Journal Article
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The natural history of leber congenital amaurosis and cone–rod dystrophy associated with variants in the GUCY2D gene
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The phenotypic spectrum of patients with PHARC syndrome due to variants in ABHD12 : an ophthalmic perspective
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Clinical characteristics and natural history of rho-associated retinitis pigmentosa : a long-term follow-up study
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Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics
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Resolving the dark matter of ABCA4 for 1,054 Stargardt disease probands through integrated genomics and transcriptomics
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The spectrum of structural and functional abnormalities in female carriers of pathogenic variants in the RPGR gene