Showing 1 - 13 results of 13 for search 'Michel Michaelides', query time: 0.09s
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IMPG2-associated unilateral adult onset vitelliform macular dystrophy by Michalis Georgiou, Muhammad Z. Chauhan, Michel Michaelides, Sami H. Uwaydat
Published 2022-12-01
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Multimorbidity due to novel pathogenic variants in the WFS1/RP1/NOD2 genes: autosomal dominant congenital lamellar cataract, retinitis pigmentosa and Crohn’s disease in a British f... by Michel Michaelides, Michalis Georgiou, Vanita Berry, Alexander Ionides, Roy A Quinlan
Published 2023-12-01
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Whole Exome Sequencing Reveals Novel and Recurrent Disease-Causing Variants in Lens Specific Gap Junctional Protein Encoding Genes Causing Congenital Cataract by Vanita Berry, Alex Ionides, Nikolas Pontikos, Ismail Moghul, Anthony T. Moore, Roy A. Quinlan, Michel Michaelides
Published 2020-05-01
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Disease-Causing <i>TIMP3</i> Variants and Deep Phenotyping of Two Czech Families with Sorsby Fundus Dystrophy Associated with Novel p.(Tyr152Cys) Mutation by Andrea Vergaro, Monika Pankievic, Jana Jedlickova, Lubica Dudakova, Marie Vajter, Michel Michaelides, Martin Meliska, Pavel Nemec, Daniela Babincova, Bohdan Kousal, Petra Liskova
Published 2024-03-01
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AAV-RPGR Gene Therapy Rescues Opsin Mislocalisation in a Human Retinal Organoid Model of <i>RPGR</i>-Associated X-Linked Retinitis Pigmentosa by Paul E. Sladen, Arifa Naeem, Toyin Adefila-Ideozu, Tijmen Vermeule, Sophie L. Busson, Michel Michaelides, Stuart Naylor, Alexandria Forbes, Amelia Lane, Anastasios Georgiadis
Published 2024-02-01
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Visual Acuity by Decade in 139 Males with RPGR-Associated Retinitis Pigmentosa by Samantha R. De Silva, DPhil, FRCOphth, Hwei Wuen Chan, MD, FRCOphth, Aditi Agarwal, MRCOphth, FICO, Andrew R. Webster, MD, FRCOphth, Michel Michaelides, MD, FRCOphth, Omar A. Mahroo, PhD, FRCOphth
Published 2024-03-01
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An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data by Valentina Cipriani, Nikolas Pontikos, Gavin Arno, Panagiotis I. Sergouniotis, Eva Lenassi, Penpitcha Thawong, Daniel Danis, Michel Michaelides, Andrew R. Webster, Anthony T. Moore, Peter N. Robinson, Julius O.B. Jacobsen, Damian Smedley
Published 2020-04-01
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The Phenotypic Spectrum of Patients with PHARC Syndrome Due to Variants in <i>ABHD12</i>: An Ophthalmic Perspective by Xuan-Thanh-An Nguyen, Hind Almushattat, Ine Strubbe, Michalis Georgiou, Catherina H. Z. Li, Mary J. van Schooneveld, Inge Joniau, Elfride De Baere, Ralph J. Florijn, Arthur A. Bergen, Carel B. Hoyng, Michel Michaelides, Bart P. Leroy, Camiel J. F. Boon
Published 2021-09-01
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Can artificial intelligence accelerate the diagnosis of inherited retinal diseases? Protocol for a data-only retrospective cohort study (Eye2Gene) by Sagnik Sen, Michel Michaelides, Andrew R Webster, Konstantinos Balaskas, Kaoru Fujinami, Manuel Gomes, Nikolas Pontikos, Susan M Downes, Malena Daich Varela, Omar A Mahroo, Thales Antonio Cabral de Guimaraes, Stephen Archer, Gavin Arno, Mital Shah, Savita Madhusudhan, Quang Nguyen, William Woof, Nathaniel Kabiri, Dayyanah Sumodhee, Ismail Moghul, Saoud Al-Khuzaei, Yichen Liu, Catherine Hollyhead, Bhavna Tailor, Loy Lobo, Carl Veal, Jennifer Furman
Published 2023-03-01
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SynthEye: Investigating the Impact of Synthetic Data on Artificial Intelligence-assisted Gene Diagnosis of Inherited Retinal Disease by Yoga Advaith Veturi, MSc, William Woof, PhD, Teddy Lazebnik, PhD, Ismail Moghul, PhD, Peter Woodward-Court, PhD, MBBS, Siegfried K. Wagner, BMBCh, Thales Antonio Cabral de Guimarães, PhD, MD, Malena Daich Varela, PhD, MD, Bart Liefers, PhD, Praveen J. Patel, MBBChir MD(Res), Stephan Beck, PhD, Andrew R. Webster, FRCOphth, Omar Mahroo, PhD, MBBChir, Pearse A. Keane, MD, MB BCH BAO, Michel Michaelides, MD, Konstantinos Balaskas, MD, Nikolas Pontikos, PhD
Published 2023-06-01
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Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina by Patricio G. Schlottmann, José D. Luna, Natalia Labat, María Belén Yadarola, Silvina Bainttein, Evangelina Esposito, Agustina Ibañez, Evangelina Ivón Barbaro, Alejandro Álvarez Mendiara, Carolina P. Picotti, Andrea Chirino Misisian, Luciana Andreussi, Julieta Gras, Luciana Capalbo, Mauro Visotto, José E. Dipierri, Emilio Alcoba, Laura Fernández Gabrielli, Silvia Ávila, María Emilia Aucar, Daniel M. Martin, Gerardo Juan Ormaechea, M. Eugenia Inga, Aníbal A. Francone, Martin Charles, Tamara Zompa, Pablo Javier Pérez, Vanesa Lotersztein, Pedro J. Nuova, Ivana B. Canonero, Omar A. Mahroo, Michel Michaelides, Gavin Arno, Malena Daich Varela
Published 2023-05-01
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