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1دورية أكاديمية
المؤلفون: Davide Piccolo, Christina Zarouchlioti, James Bellingham, Rosellina Guarascio, Kalliopi Ziaka, Robert S. Molday, Michael E. Cheetham
المصدر: International Journal of Molecular Sciences, Vol 25, Iss 8, p 4521 (2024)
مصطلحات موضوعية: ABCA4-related retinopathy, Stargardt disease, missense variants, protein misfolding, folding correctors, protein mistrafficking, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
العلاقة: https://www.mdpi.com/1422-0067/25/8/4521Test; https://doaj.org/toc/1661-6596Test; https://doaj.org/toc/1422-0067Test
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2دورية أكاديمية
المؤلفون: Tess A.V. Afanasyeva, Dimitra Athanasiou, Pedro R.L. Perdigao, Kae R. Whiting, Lonneke Duijkers, Galuh D.N. Astuti, Jean Bennett, Alejandro Garanto, Jacqueline van der Spuy, Ronald Roepman, Michael E. Cheetham, Rob W.J. Collin
المصدر: Molecular Therapy: Methods & Clinical Development, Vol 29, Iss , Pp 522-531 (2023)
مصطلحات موضوعية: retinal organoid, retinal disease, Leber congenital amaurosis, CRISPR-Cas9, isogenic, lebercilin, Genetics, QH426-470, Cytology, QH573-671
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2329050123000748Test; https://doaj.org/toc/2329-0501Test
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3دورية أكاديمية
المؤلفون: Melita Kaltak, Petra de Bruijn, Davide Piccolo, Sang-Eun Lee, Kalyan Dulla, Thomas Hoogenboezem, Wouter Beumer, Andrew R. Webster, Rob W.J. Collin, Michael E. Cheetham, Gerard Platenburg, Jim Swildens
المصدر: Molecular Therapy: Nucleic Acids, Vol 31, Iss , Pp 674-688 (2023)
مصطلحات موضوعية: MT: Oligonucleotides: Therapies and Applications, RNA therapy, antisense oligonucleotides, Stargardt disease, splicing correction, retinal organoids, Therapeutics. Pharmacology, RM1-950
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2162253123000409Test; https://doaj.org/toc/2162-2531Test
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4دورية أكاديمية
المؤلفون: Paul W. Chrystal, Nils J. Lambacher, Lance P. Doucette, James Bellingham, Elena R. Schiff, Nicole C. L. Noel, Chunmei Li, Sofia Tsiropoulou, Geoffrey A. Casey, Yi Zhai, Nathan J. Nadolski, Mohammed H. Majumder, Julia Tagoe, Fabiana D’Esposito, Maria Francesca Cordeiro, Susan Downes, Jill Clayton-Smith, Jamie Ellingford, Genomics England Research Consortium, Omar A. Mahroo, Jennifer C. Hocking, Michael E. Cheetham, Andrew R. Webster, Gert Jansen, Oliver E. Blacque, W. Ted Allison, Ping Yee Billie Au, Ian M. MacDonald, Gavin Arno, Michel R. Leroux
المصدر: Nature Communications, Vol 13, Iss 1, Pp 1-22 (2022)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2041-1723Test
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5دورية أكاديمية
المؤلفون: Paul E. Sladen, Pedro R.L. Perdigão, Grace Salsbury, Tatiana Novoselova, Jacqueline van der Spuy, J. Paul Chapple, Patrick Yu-Wai-Man, Michael E. Cheetham
المصدر: Molecular Therapy: Nucleic Acids, Vol 26, Iss , Pp 432-443 (2021)
مصطلحات موضوعية: mitochondria, gene editing, CRISPR, gene correction, iPSC, optic atrophy, Therapeutics. Pharmacology, RM1-950
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2162253121002092Test; https://doaj.org/toc/2162-2531Test
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6دورية أكاديمية
المؤلفون: Julio C. Corral-Serrano, Paul E. Sladen, Daniele Ottaviani, Olivia F. Rezek, Dimitra Athanasiou, Katarina Jovanovic, Jacqueline van der Spuy, Brian C. Mansfield, Michael E. Cheetham
المصدر: Cells, Vol 12, Iss 12, p 1575 (2023)
مصطلحات موضوعية: CEP290, Leber congenital amaurosis (LCA), retina, ciliopathy, photoreceptor, cilium, Cytology, QH573-671
وصف الملف: electronic resource
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7دورية أكاديمية
المؤلفون: Mubeen Khan, Gavin Arno, Ana Fakin, David A. Parfitt, Patty P.A. Dhooge, Silvia Albert, Nathalie M. Bax, Lonneke Duijkers, Michael Niblock, Kwan L. Hau, Edward Bloch, Elena R. Schiff, Davide Piccolo, Michael C. Hogden, Carel B. Hoyng, Andrew R. Webster, Frans P.M. Cremers, Michael E. Cheetham, Alejandro Garanto, Rob W.J. Collin
المصدر: Molecular Therapy: Nucleic Acids, Vol 21, Iss , Pp 412-427 (2020)
مصطلحات موضوعية: ABCA4, antisense oligonucleotides, intronic mutations, splicing, Stargardt disease, iPSC, Therapeutics. Pharmacology, RM1-950
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2162253120301682Test; https://doaj.org/toc/2162-2531Test
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8دورية أكاديمية
المؤلفون: Kalyan Dulla, Monica Aguila, Amelia Lane, Katarina Jovanovic, David A. Parfitt, Iris Schulkens, Hee Lam Chan, Iris Schmidt, Wouter Beumer, Lars Vorthoren, Rob W.J. Collin, Alejandro Garanto, Lonneke Duijkers, Anna Brugulat-Panes, Ma’ayan Semo, Anthony A. Vugler, Patricia Biasutto, Peter Adamson, Michael E. Cheetham
المصدر: Molecular Therapy: Nucleic Acids, Vol 12, Iss , Pp 730-740 (2018)
مصطلحات موضوعية: Therapeutics. Pharmacology, RM1-950
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2162253118301513Test; https://doaj.org/toc/2162-2531Test
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9دورية أكاديمية
المؤلفون: Conor M. Ramsden, Britta Nommiste, Amelia R. Lane, Amanda-Jayne F. Carr, Michael B. Powner, Matthew J. K. Smart, Li Li Chen, Manickam N. Muthiah, Andrew R. Webster, Anthony T. Moore, Michael E. Cheetham, Lyndon da Cruz, Peter J. Coffey
المصدر: Scientific Reports, Vol 7, Iss 1, Pp 1-9 (2017)
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2045-2322Test
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10
المؤلفون: Michalis Georgiou, Anthony G. Robson, Katarina Jovanovic, Thales A. C. de Guimarães, Naser Ali, Nikolas Pontikos, Sami H. Uwaydat, Omar A. Mahroo, Michael E. Cheetham, Andrew R. Webster, Alison J. Hardcastle, Michel Michaelides
المصدر: Ophthalmology. 130:413-422
مصطلحات موضوعية: Ophthalmology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::63886c2774cb85c4940f30813e294ff9Test
https://doi.org/10.1016/j.ophtha.2022.11.015Test