Search Results - "Palchetti, Simona"
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Retinal dystrophy and subretinal drusenoid deposits in female choroideremia carriers
Published in Graefe's archive for clinical and experimental ophthalmology (01-11-2017)“…Purpose To describe clinical and molecular characteristics in a group of Italian female choroideremia (CHM) carriers and report fundus patterns. Methods We…”
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A novel GRK1 mutation in an Italian patient with Oguchi disease
Published in Ophthalmic genetics (02-01-2018)Get full text
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CFH Y402H polymorphism in Italian patients with age-related macular degeneration, retinitis pigmentosa, and Stargardt disease
Published in Ophthalmic genetics (02-11-2018)“…The complement system has been implicated in the pathogenesis of age-related macular degeneration (AMD) and the CFH Y402H polymorphism has been suggested as a…”
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An additional case of cerebrofaciothoracic dysplasia associated with Chiari type I malformation
Published in Clinical dysmorphology (01-07-2013)Get full text
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CFH Y402H polymorphism in Italian patients with age-related macular degeneration, retinitis pigmentosa, and Stargardt disease
Published in Ophthalmic Genetics (02-11-2018)“…Background: The complement system has been implicated in the pathogenesis of age-related macular degeneration (AMD) and the CFH Y402H polymorphism has been…”
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