المؤلفون: Leo, Shaun M., Neveu, Magella M.^{Aff1, Aff2}, Yu-Wai-Man, Patrick^{Aff1, Aff2, Aff3, Aff4}, Mahroo, Omar A.^{Aff1, Aff2, Aff5, Aff6, Aff7}, Robson, Anthony G.^{Aff1, Aff2, IDs10633023099565_cor5}

المصدر: Documenta Ophthalmologica: The Journal of Clinical Electrophysiology and Vision - The Official Journal of the International Society for Clinical Electrophysiology and Vision. 147(3):165-177

المؤلفون: Georgiou, Michalis, Robson, Anthony G., Fujinami, Kaoru, de Guimarães, Thales A.C., Fujinami-Yokokawa, Yu, Daich Varela, Malena, Pontikos, Nikolas, Kalitzeos, Angelos, Mahroo, Omar A., Webster, Andrew R., Michaelides, Michel

المصدر: In Progress in Retinal and Eye Research May 2024 100

المؤلفون: Georgiou, Michalis, Robson, Anthony G., Uwaydat, Sami H., Ji, Marco H., Shakarchi, Ahmed F., Pontikos, Nikolas, Mahroo, Omar A., Cheetham, Michael E., Webster, Andrew R., Hardcastle, Alison J., Michaelides, Michel

المصدر: In American Journal of Ophthalmology May 2024 261:112-120

المؤلفون: McCulloch, Daphne L.^{Aff1, IDs1063302309932z_cor1}, Bach, Michael, Brigell, Mitchell, Chan, Hoover^{Aff4, Aff5}, Hamilton, Ruth^{Aff6, Aff7}, Hogg, Chris, Odom, J. Vernon^{Aff9, Aff10}, Robson, Anthony G.^{Aff8, Aff11}

المصدر: Documenta Ophthalmologica: The Journal of Clinical Electrophysiology and Vision - The Official Journal of the International Society for Clinical Electrophysiology and Vision. :1-12

المؤلفون: SEN, SAGNIK, FABOZZI, LORENZO, FUJINAMI, KAORU, FUJINAMI-YOKOKAWA, YU, WRIGHT, GENEVIEVE A., WEBSTER, ANDREW, MAHROO, OMAR, ROBSON, ANTHONY G., GEORGIOU, MICHALIS, MICHAELIDES, MICHEL

المصدر: In American Journal of Ophthalmology August 2024 264:205-215

المؤلفون: Georgiou, Michalis, Fujinami, Kaoru, Robson, Anthony G., Fujinami-Yokokawa, Yu, Shakarchi, Ahmed F., Ji, Marco H., Uwaydat, Sami H., Kim, Angela, Kolesnikova, Masha, Arno, Gavin, Pontikos, Nikolas, Mahroo, Omar A., Tsang, Stephen H., Webster, Andrew R., Michaelides, Michel

المصدر: In American Journal of Ophthalmology February 2024 258:119-129

المؤلفون: Jurkute, Neringa, D'Esposito, Fabiana, Robson, Anthony G, Pitceathly, Robert DS, Cordeiro, Francesca, Raymond, F Lucy, Moore, Anthony T, Michaelides, Michel, Yu-Wai-Man, Patrick, Webster, Andrew R, Arno, Gavin

المصدر: Investigative Ophthalmology & Visual Science. 62(15)

مصطلحات موضوعية: Human Genome, Genetics, Neurosciences, Eye Disease and Disorders of Vision, Rare Diseases, Clinical Research, 2.1 Biological and endogenous factors, Aetiology, Eye, Good Health and Well Being, Adolescent, Amino Acid Sequence, Child, Preschool, DNA, Mitochondrial, DNA-Binding Proteins, Electroretinography, Female, Genes, Recessive, Genotyping Techniques, Humans, Male, Middle Aged, Mitochondrial Diseases, Mitochondrial Proteins, Molecular Conformation, Molecular Sequence Data, Mutation, Missense, Optic Atrophy, Pedigree, Penetrance, Protein Stability, Protein Structure, Quaternary, Retinal Dystrophies, Whole Genome Sequencing, SSBP1, mtSSB, mtDNA replication, inherited optic neuropathy, retinal dystrophy, Genomics England Research Consortium, Biological Sciences, Medical and Health Sciences, Ophthalmology & Optometry

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/5998j8pw

المؤلفون: Jurkute, Neringa, Shanmugarajah, Priya D, Hadjivassiliou, Marios, Higgs, Jenny, Vojcic, Miodrag, Horrocks, Iain, Nadjar, Yann, Touitou, Valerie, Lenaers, Guy, Poh, Roy, Acheson, James, Robson, Anthony G, Raymond, F Lucy, Reilly, Mary M, Yu-Wai-Man, Patrick, Moore, Anthony T, Webster, Andrew R, Arno, Gavin, Consortium, for the Genomics England Research

المصدر: Investigative Ophthalmology & Visual Science. 62(6)

مصطلحات موضوعية: Rare Diseases, Clinical Research, Genetics, Biotechnology, Neurosciences, Eye Disease and Disorders of Vision, Human Genome, 2.1 Biological and endogenous factors, Aetiology, Eye, Adolescent, Adult, Child, Child, Preschool, Electroretinography, Female, Ferredoxin-NADP Reductase, Humans, Male, Mutation, Missense, Pedigree, Phenotype, Retina, Retinal Dystrophies, Retrospective Studies, Visual Acuity, Exome Sequencing, Young Adult, FDXR, ferredoxin reductase, syndromic optic neuropathy, retinal dystrophy, neurodegenerative disorder, iron accumulation, Genomics England Research Consortium, Biological Sciences, Medical and Health Sciences, Ophthalmology & Optometry

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/3x32m4g1

المؤلفون: Michaelides, Michel, Hirji, Nashila, Wong, Sui Chien, Besirli, Cagri G., Zaman, Serena, Kumaran, Neruban, Georgiadis, Anastasios, Smith, Alexander J., Ripamonti, Caterina, Gottlob, Irene, Robson, Anthony G., Thiadens, Alberta, Henderson, Robert H., Fleck, Penny, Anglade, Eddy, Dong, Xiangwen, Capuano, George, Lu, Wentao, Berry, Pamela, Kane, Thomas, Naylor, Stuart, Georgiou, Michalis, Kalitzeos, Angelos, Ali, Robin R., Forbes, Alexandria, Bainbridge, James

المصدر: In American Journal of Ophthalmology September 2023 253:243-251

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