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PUBMED FOR HANDHELDS

Journal Abstract Search


376 related items for PubMed ID: 30324420

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  • 23. Novel NR2E3 mutations (R104Q, R334G) associated with a mild form of enhanced S-cone syndrome demonstrate compound heterozygosity.
    Hayashi T, Gekka T, Goto-Omoto S, Takeuchi T, Kubo A, Kitahara K.
    Ophthalmology; 2005 Dec; 112(12):2115. PubMed ID: 16225923
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  • 27. Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients.
    Heath Jeffery RC, Thompson JA, Lo J, Chelva ES, Armstrong S, Pulido JS, Procopio R, Vincent AL, Bianco L, Battaglia Parodi M, Ziccardi L, Antonelli G, Barbano L, Marques JP, Geada S, Carvalho AL, Tang WC, Chan CM, Boon CJF, Hensman J, Chen TC, Lin CY, Chen PL, Vincent A, Tumber A, Heon E, Grigg JR, Jamieson RV, Cornish EE, Nash BM, Borooah S, Ayton LN, Britten-Jones AC, Edwards TL, Ruddle JB, Sharma A, Porter RG, Lamey TM, McLaren TL, McLenachan S, Roshandel D, Chen FK.
    Invest Ophthalmol Vis Sci; 2024 May 01; 65(5):22. PubMed ID: 38743414
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  • 28. Sorsby Fundus Dystrophy: Novel Mutations, Novel Phenotypic Characteristics, and Treatment Outcomes.
    Gliem M, Müller PL, Mangold E, Holz FG, Bolz HJ, Stöhr H, Weber BH, Charbel Issa P.
    Invest Ophthalmol Vis Sci; 2015 Apr 01; 56(4):2664-76. PubMed ID: 25766588
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  • 30. Disease Expression in Autosomal Recessive Retinal Dystrophy Associated With Mutations in the DRAM2 Gene.
    Sergouniotis PI, McKibbin M, Robson AG, Bolz HJ, De Baere E, Müller PL, Heller R, El-Asrag ME, Van Schil K, Plagnol V, Toomes C, Uk Inherited Retinal Disease Consortium, Ali M, Holder GE, Charbel Issa P, Leroy BP, Inglehearn CF, Webster AR.
    Invest Ophthalmol Vis Sci; 2015 Dec 01; 56(13):8083-90. PubMed ID: 26720460
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  • 31. Novel C8orf37 Mutations in Patients with Early-onset Retinal Dystrophy, Macular Atrophy, Cataracts, and High Myopia.
    Katagiri S, Hayashi T, Yoshitake K, Akahori M, Ikeo K, Gekka T, Tsuneoka H, Iwata T.
    Ophthalmic Genet; 2016 Dec 01; 37(1):68-75. PubMed ID: 25113443
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  • 34. A novel compound heterozygous BEST1 gene mutation in two siblings causing autosomal recessive bestrophinopathy.
    Haque OI, Chandrasekaran A, Nabi F, Ahmad O, Marques JP, Ahmad T.
    BMC Ophthalmol; 2022 Dec 16; 22(1):493. PubMed ID: 36527004
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  • 35. A Novel BEST1 Mutation in Autosomal Recessive Bestrophinopathy.
    Lee CS, Jun I, Choi SI, Lee JH, Lee MG, Lee SC, Kim EK.
    Invest Ophthalmol Vis Sci; 2015 Dec 16; 56(13):8141-50. PubMed ID: 26720466
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  • 39. Macular staphyloma in patients affected by Joubert syndrome with retinal dystrophy: a new finding detected by SD-OCT.
    Toma C, Ruberto G, Marzi F, Vandelli G, Signorini S, Valente EM, Antonini M, Bertone C, Bianchi PE.
    Doc Ophthalmol; 2018 Aug 16; 137(1):25-36. PubMed ID: 29987673
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