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Journal Abstract Search

393 related items for PubMed ID: 24702842

  • 1. Gene discovery and prevalence in inherited retinal dystrophies.
    Hamel CP.
    C R Biol; 2014 Mar; 337(3):160-6. PubMed ID: 24702842
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  • 2. RPE65 mutations in Leber congenital amaurosis, early-onset severe retinal dystrophy, and retinitis pigmentosa from a tertiary eye care center in India.
    Parameswarappa DC, Bagga DK, Upadhyaya A, Balasubramanian J, Pochaboina V, Muthineni V, Jalali S, Kannabiran C.
    Ophthalmic Genet; 2024 Jun; 45(3):303-312. PubMed ID: 38323530
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  • 12. Biallelic RP1-associated retinal dystrophies: Expanding the mutational and clinical spectrum.
    Huckfeldt RM, Grigorian F, Place E, Comander JI, Vavvas D, Young LH, Yang P, Shurygina M, Pierce EA, Pennesi ME.
    Mol Vis; 2020 Jun; 26():423-433. PubMed ID: 32565670
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  • 13. Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1.
    Henderson RH, Mackay DS, Li Z, Moradi P, Sergouniotis P, Russell-Eggitt I, Thompson DA, Robson AG, Holder GE, Webster AR, Moore AT.
    Br J Ophthalmol; 2011 Jun; 95(6):811-7. PubMed ID: 20956273
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  • 16. A multidisciplinary approach to inherited retinal dystrophies from diagnosis to initial care: a narrative review with inputs from clinical practice.
    Murro V, Banfi S, Testa F, Iarossi G, Falsini B, Sodi A, Signorini S, Iolascon A, Russo R, Mucciolo DP, Caputo R, Bacci GM, Bargiacchi S, Turco S, Fortini S, Simonelli F.
    Orphanet J Rare Dis; 2023 Jul 31; 18(1):223. PubMed ID: 37525225
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  • 20. [Implementation of a new gene therapy in ophthalmology: Regulatory and organizational issues].
    Daruich A, Boinet R, Falcou C, Cotteret C, Magassa A, Schlatter J, Escalup R, Cisternino S, Valleix S, Robert MP, Bremond-Gignac D.
    J Fr Ophtalmol; 2021 May 31; 44(5):730-737. PubMed ID: 33838946
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