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Your search keyword '"Schwartz, Sharon B."' showing total 7 results

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7 results on '"Schwartz, Sharon B."'

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1. Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degeneration

2. Variegated yet non-random rod and cone photoreceptor disease patterns inRPGR-ORF15-associated retinal degeneration

3. Protein misfolding and the pathogenesis of ABCA4-associated retinal degenerations

4. Determining consequences of retinal membrane guanylyl cyclase (RetGC1) deficiency in human Leber congenital amaurosis en route to therapy: residual cone-photoreceptor vision correlates with biochemical properties of the mutants

5. Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy

6. ABCA4 disease progression and a proposed strategy for gene therapy

7. Mutations in ABCA4 result in accumulation of lipofuscin before slowing of the retinoid cycle: a reappraisal of the human disease sequence

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