نتائج البحث - "van den Born, LI"

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دورية أكاديمية

Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides

المؤلفون: Sangermano, R, Garanto, A, Khan, M, Runhart, EH, Bauwens, M, Bax, NM, van den Born, LI, Khan, MI, Cornelis, SS, Verheij, JBGM, Pott, JWR, Thiadens, AAHJ, Klaver, CCW, Puech, B, Meunier, I, Naessens, S, Arno, G, Fakin, A, Carss, KJ, Raymond, FL, Webster, AR, Dhaenens, CM, Stohr, H, Grassmann, F, Weber, BHF, Hoyng, CB, De Baere, E, Albert, S, Collin, RWJ, Cremers, FPM

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 21(8):1751-1760

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:141534735

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Baseline characteristics of patients with Usher Syndrome due to MYO7A mutations enrolled in a prospective natural history study

المؤلفون: Testa F, Carreno E, Vermeer K, Di Lorio V, Jimenez-Rolando B, Karali M, Sandoval BG, Romero IP, Salvador JM, Melillo P, Banfi S, Auricchio A, van den Born LI, Ayuso C, Simonelli F

المساهمون: Testa, F, Carreno, E, Vermeer, K, Di Lorio, V, Jimenez-Rolando, B, Karali, M, Sandoval, Bg, Romero, Ip, Salvador, Jm, Melillo, P, Banfi, S, Auricchio, A, van den Born, Li, Ayuso, C, Simonelli, F

مصطلحات موضوعية: genetic structures, eye diseases

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______3977::b0b4a553fda1ee22325427a9dbead39a
http://hdl.handle.net/11591/463050

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Clinical Characterization of 66 Patients With Congenital Retinal Disease Due to the Deep-Intronic c.2991+11655A > G Mutation in CEP290

المؤلفون: Valkenburg, D, Van Cauwenbergh, C, Lorenz, B, van Genderen, MM, Bertelsen, M, Pott, JWR, Coppieters, F, de Zaeytijd, J, Thiadens, Alberta, Klaver, Caroline, Kroes, HY, van Schooneveld, MJ, Preising, M, Hoyng, CB, Leroy, BP, van den Born, LI, Collin, RWJ

المساهمون: Ophthalmology, Epidemiology

المصدر: Investigative ophthalmology & visual science, 59(11), 4384-4391. ASSOC RESEARCH VISION OPHTHALMOLOGY INC
Investigative Ophthalmology & Visual Science, 59(11), 4384-4391. Association for Research in Vision and Ophthalmology Inc.

مصطلحات موضوعية: AMAUROSIS, retina, genetic structures, IDENTIFICATION, FEATURES, DYSTROPHY, DEGENERATION, PHENOTYPE, low vision, GENE, THERAPY, eye diseases, RPE65 MUTATIONS, MECHANISMS, genetic diseases, visual development, sense organs, retinal dystrophy