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1Academic Journal
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
Relation: https://doaj.org/toc/2041-1723
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2Academic Journal
المؤلفون: Hajrah Sarkar, Adam M. Dubis, Susan Downes, Mariya Moosajee
المصدر: Frontiers in Genetics, Vol 11 (2020)
مصطلحات موضوعية: RDH12, autosomal dominant, retinitis pigmentosa, adaptive optics, Leber congenital amaurosis, Genetics, QH426-470
وصف الملف: electronic resource
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3Academic Journal
المؤلفون: Nikolas Pontikos, Cian Murphy, Ismail Moghul, Gavin Arno, Kaoru Fujinami, Yu Fujinami, Dayyanah Sumodhee, Susan Downes, Andrew Webster, Jing Yu, UK Inherited Retinal Dystrophy Consortium, Phenopolis Consortium
المصدر: PLoS ONE, Vol 15, Iss 4, p e0230587 (2020)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1932-6203
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4Academic Journal
المؤلفون: Usha Chakravarthy, Simon P Harding, Chris A Rogers, Susan Downes, Andrew J Lotery, Helen A Dakin, Lucy Culliford, Lauren J Scott, Rachel L Nash, Jodi Taylor, Alyson Muldrew, Jayashree Sahni, Sarah Wordsworth, James Raftery, Tunde Peto, Barnaby C Reeves, for the IVAN Investigators
المصدر: Health Technology Assessment, Vol 19, Iss 78 (2015)
مصطلحات موضوعية: randomised controlled trial, effectiveness, cost-effectiveness, treatment, inhibition, vascular endothelial growth factor, age, neovascularisation, ivan, bevacizumab, ranibizumab, macular degeneration, Medical technology, R855-855.5
وصف الملف: electronic resource
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5
المؤلفون: Samar Yahya, Claire E.L. Smith, James A. Poulter, Martin McKibbin, Gavin Arno, Jamie Ellingford, Kati Kämpjärvi, Muhammad I. Khan, Frans P.M. Cremers, Alison J. Hardcastle, Bruce Castle, David H.W. Steel, Andrew R. Webster, Graeme C. Black, Mohammed E. El-Asrag, Manir Ali, Carmel Toomes, Chris F. Inglehearn, Stuart Ingram, Rachel Taylor, Forbes Manson, Panagiotis Sergouniotis, Nikolas Pontikos, Michael Cheetham, Alessia Fiorentino, Susan Downes, Jing Yu, Stephanie Halford, Suzanne Broadgate, Veronica van Heyningen, John C. Ambrose, Prabhu Arumugam, Roel Bevers, Marta Bleda, Freya Boardman-Pretty, Christopher R. Boustred, Helen Brittain, Mark J. Caulfield, Georgia C. Chan, Greg Elgar, Tom Fowler, Adam Giess, Angela Hamblin, Shirley Henderson, Tim J.P. Hubbard, Rob Jackson, Louise J. Jones, Dalia Kasperaviciute, Melis Kayikci, Athanasios Kousathanas, Lea Lahnstein, Sarah E.A. Leigh, Ivonne U.S. Leong, Javier F. Lopez, Fiona Maleady-Crowe, Meriel McEntagart, Federico Minneci, Loukas Moutsianas, Michael Mueller, Nirupa Murugaesu, Anna C. Need, Peter O’Donovan, Chris A. Odhams, Christine Patch, Mariana Buongermino Pereira, Daniel Perez-Gil, John Pullinger, Tahrima Rahim, Augusto Rendon, Tim Rogers, Kevin Savage, Kushmita Sawant, Richard H. Scott, Afshan Siddiq, Alexander Sieghart, Samuel C. Smith, Alona Sosinsky, Alexander Stuckey, Mélanie Tanguy, Ana Lisa Taylor Tavares, Ellen R.A. Thomas, Simon R. Thompson, Arianna Tucci, Matthew J. Welland, Eleanor Williams, Katarzyna Witkowska, Suzanne M. Wood
المصدر: Ophthalmology, 130, 68-76
Ophthalmology, 130, 1, pp. 68-76مصطلحات موضوعية: Ophthalmology, All institutes and research themes of the Radboud University Medical Center, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12]
وصف الملف: application/pdf
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المؤلفون: Tunde Peto, Rebecca N. Evans, Barnaby C. Reeves, Simon Harding, Savita Madhusudhan, Andrew Lotery, Susan Downes, Konstantinos Balaskas, Clare C. Bailey, Alexander Foss, Faruque Ghanchi, Yit Yang, Dawn Phillips, Chris A. Rogers, Alyson Muldrew, Barbra Hamill, Usha Chakravarthy
المصدر: Ophthalmology Retina. 6:664-675
مصطلحات موضوعية: Ophthalmology
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7
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8
المؤلفون: Naeem Iqbal, Matthew Stahl, Ernest Lim, Saoud Al-Khuzaei, Rebecca Jones, Dorothy Halliday, Susan Downes
المصدر: Cureus. 14(12)
مصطلحات موضوعية: General Engineering
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9Academic Journal
المؤلفون: King Leung, Susan Downes, Victor Chong
المصدر: Vision; Volume 2; Issue 1; Pages: 5
مصطلحات موضوعية: neovascular age-related macular degeneration, subretinal hyper-reflective material, spectral-domain optical coherence tomography, biomarker, aflibercept
وصف الملف: application/pdf
Relation: https://dx.doi.org/10.3390/vision2010005
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10
المؤلفون: Nikolas Pontikos, William Woof, Advaith Veturi, Behnam Javanmardi, Miguel Ibarra-Arellano, Alexander Hustinx, Ismail Moghul, Yichen Liu, Kristina Heß, Michalis Georgiou, Maximilian Pfau, Mital Shah, Jing Yu, Saoud Al-Khuzaei, Siegfried Wagner, Malena Daich Varela, Thales Cabral de Guimarães, Sagnik Sen, Nathaniel Kabiri, Quang Nguyen, Jennifer Furman, Bart Liefers, Aaron Lee, Samantha De Silva, Caio Texeira, Fabiana Motta, Yu Fujinami-Yokokawa, Gavin Arno, Kaoru Fujinami, Juliana Sallum, Savita Madhusudhan, Susan Downes, Frank Holz, Konstantinos Balaskas, Andrew Webster, Omar Mahroo, Peter Krawitz, Michel Michaelides
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11
المؤلفون: Aislin Sheldon, Jasleen Jolly, Betina Ip, William Clarke, Saad Jbabdi, Susan Downes, Holly Bridge
المصدر: Journal of Vision. 22:4331
مصطلحات موضوعية: Ophthalmology, Sensory Systems
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12
المؤلفون: Rachel L. Taylor, James A. Poulter, Susan M. Downes, Martin McKibbin, Kamron N. Khan, Chris F. Inglehearn, Andrew R. Webster, Alison J. Hardcastle, Michel Michaelides, Paul N. Bishop, Simon J. Clark, Graeme C. Black, Graeme Black, Georgina Hall, Stuart Ingram, Rachel Taylor, Forbes Manson, Panagiotis Sergouniotis, Andrew Webster, Alison Hardcastle, Vincent Plagnol, Nikolas Pontikos, Michael Cheetham, Gavin Arno, Alessia Fiorentino, Chris Inglehearn, Carmel Toomes, Manir Ali, Claire Smith, Kamron Khan, Susan Downes, Jing Yu, Stephanie Halford, Suzanne Broadgate, Veronica van Heyningen
المصدر: Ophthalmology. 126:1410-1421
مصطلحات موضوعية: Male, Muscle Proteins, Retinal Drusen, Drusen, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Exome sequencing, Aged, Retrospective Studies, 030304 developmental biology, Genetics, 0303 health sciences, Mutation, biology, business.industry, Intracellular Signaling Peptides and Proteins, Genetic Variation, LIM Domain Proteins, Middle Aged, Macular degeneration, medicine.disease, eye diseases, 3. Good health, Complement system, Ophthalmology, Complement Factor H, Factor H, 030221 ophthalmology & optometry, biology.protein, Female, sense organs, Haploinsufficiency, business, Complement control protein
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13
المؤلفون: Gavin Arno, Keren J. Carss, Sarah Hull, Ceniz Zihni, Anthony G. Robson, Alessia Fiorentino, Alison J. Hardcastle, Graham E. Holder, Michael E. Cheetham, Vincent Plagnol, Anthony T. Moore, F. Lucy Raymond, Karl Matter, Maria S. Balda, Andrew R. Webster, Graeme Black, Georgina Hall, Stuart Ingram, Rachel Gillespie, Forbes Manson, Panagiotis Sergouniotis, Chris Inglehearn, Carmel Toomes, Manir Ali, Martin McKibbin, James Poulter, Kamron Khan, Emma Lord, Andrea Nemeth, Susan Downes, Stephanie Halford, Jing Yu, Stefano Lise, Nikos Ponitkos, Michel Michaelides, Veronica van Heyningen, Timothy Aitman, Hana Alachkar, Sonia Ali, Louise Allen, David Allsup, Gautum Ambegaonkar, Julie Anderson, Richard Antrobus, Ruth Armstrong, Gururaj Arumugakani, Sofie Ashford, William Astle, Antony Attwood, Steve Austin, Chiara Bacchelli, Tamam Bakchoul, Tadbir K. Bariana, Helen Baxendale, David Bennett, Claire Bethune, Shahnaz Bibi, Maria Bitner-Glindzicz, Marta Bleda, Harm Boggard, Paula Bolton-Maggs, Claire Booth, John R. Bradley, Angie Brady, Matthew Brown, Michael Browning, Christine Bryson, Siobhan Burns, Paul Calleja, Natalie Canham, Jenny Carmichael, Keren Carss, Mark Caulfield, Elizabeth Chalmers, Anita Chandra, Patrick Chinnery, Manali Chitre, Colin Church, Emma Clement, Naomi Clements-Brod, Virginia Clowes, Gerry Coghlan, Peter Collins, Nichola Cooper, Amanda Creaser-Myers, Rosa DaCosta, Louise Daugherty, Sophie Davies, John Davis, Minka De Vries, Patrick Deegan, Sri V.V. Deevi, Charu Deshpande, Lisa Devlin, Eleanor Dewhurst, Rainer Doffinger, Natalie Dormand, Elizabeth Drewe, David Edgar, William Egner, Wendy N. Erber, Marie Erwood, Tamara Everington, Remi Favier, Helen Firth, Debra Fletcher, Frances Flinter, James C. Fox, Amy Frary, Kathleen Freson, Bruce Furie, Abigail Furnell, Daniel Gale, Alice Gardham, Michael Gattens, Neeti Ghali, Pavandeep K. Ghataorhe, Rohit Ghurye, Simon Gibbs, Kimberley Gilmour, Paul Gissen, Sarah Goddard, Keith Gomez, Pavel Gordins, Stefan Gräf, Daniel Greene, Alan Greenhalgh, Andreas Greinacher, Sofia Grigoriadou, Detelina Grozeva, Scott Hackett, Charaka Hadinnapola, Rosie Hague, Matthias Haimel, Csaba Halmagyi, Tracey Hammerton, Daniel Hart, Grant Hayman, Johan W.M. Heemskerk, Robert Henderson, Anke Hensiek, Yvonne Henskens, Archana Herwadkar, Simon Holden, Muriel Holder, Susan Holder, Fengyuan Hu, Aarnoud Huissoon, Marc Humbert, Jane Hurst, Roger James, Stephen Jolles, Dragana Josifova, Rashid Kazmi, David Keeling, Peter Kelleher, Anne M. Kelly, Fiona Kennedy, David Kiely, Nathalie Kingston, Ania Koziell, Deepa Krishnakumar, Taco W. Kuijpers, Dinakantha Kumararatne, Manju Kurian, Michael A. Laffan, Michele P. Lambert, Hana Lango Allen, Allan Lawrie, Sara Lear, Melissa Lees, Claire Lentaigne, Ri Liesner, Rachel Linger, Hilary Longhurst, Lorena Lorenzo, Rajiv Machado, Rob Mackenzie, Robert MacLaren, Eamonn Maher, Jesmeen Maimaris, Sarah Mangles, Ania Manson, Rutendo Mapeta, Hugh S. Markus, Jennifer Martin, Larahmie Masati, Mary Mathias, Vera Matser, Anna Maw, Elizabeth McDermott, Coleen McJannet, Stuart Meacham, Sharon Meehan, Karyn Megy, Sarju Mehta, Carolyn M. Millar, Shahin Moledina, Anthony Moore, Nicholas Morrell, Andrew Mumford, Sai Murng, Elaine Murphy, Sergey Nejentsev, Sadia Noorani, Paquita Nurden, Eric Oksenhendler, Willem H. Ouwehand, Sofia Papadia, Soo-Mi Park, Alasdair Parker, John Pasi, Chris Patch, Joan Paterson, Jeanette Payne, Andrew Peacock, Kathelijne Peerlinck, Christopher J. Penkett, Joanna Pepke-Zaba, David J. Perry, Val Pollock, Gary Polwarth, Mark Ponsford, Waseem Qasim, Isabella Quinti, Stuart Rankin, Julia Rankin, Karola Rehnstrom, Evan Reid, Christopher J. Rhodes, Michael Richards, Sylvia Richardson, Alex Richter, Irene Roberts, Matthew Rondina, Elisabeth Rosser, Catherine Roughley, Kevin Rue-Albrecht, Crina Samarghitean, Alba Sanchis-Juan, Richard Sandford, Saikat Santra, Ravishankar Sargur, Sinisa Savic, Sol Schulman, Harald Schulze, Richard Scott, Marie Scully, Suranjith Seneviratne, Carrock Sewell, Olga Shamardina, Debbie Shipley, Ilenia Simeoni, Suthesh Sivapalaratnam, Kenneth Smith, Aman Sohal, Laura Southgate, Simon Staines, Emily Staples, Hans Stauss, Penelope Stein, Jonathan Stephens, Kathleen Stirrups, Sophie Stock, Jay Suntharalingam, R. Campbell Tait, Kate Talks, Yvonne Tan, Jecko Thachil, James Thaventhiran, Ellen Thomas, Moira Thomas, Dorothy Thompson, Adrian Thrasher, Marc Tischkowitz, Catherine Titterton, Cheng-Hock Toh, Mark Toshner, Carmen Treacy, Richard Trembath, Salih Tuna, Wojciech Turek, Ernest Turro, Chris Van Geet, Marijke Veltman, Julie Vogt, Julie von Ziegenweldt, Anton Vonk Noordegraaf, Emma Wakeling, Ivy Wanjiku, Timothy Q. Warner, Evangeline Wassmer, Hugh Watkins, Andrew Webster, Steve Welch, Sarah Westbury, John Wharton, Deborah Whitehorn, Martin Wilkins, Lisa Willcocks, Catherine Williamson, Geoffrey Woods, John Wort, Nigel Yeatman, Patrick Yong, Tim Young, Ping Yu
المساهمون: Pediatric surgery, Molecular cell biology and Immunology, Pulmonary medicine, ACS - Pulmonary hypertension & thrombosis, APH - Quality of Care, Amsterdam Reproduction & Development (AR&D), RS: CARIM - R1.04 - Clinical thrombosis and haemostasis, MUMC+: DA CDL Algemeen (9), Med Microbiol, Infect Dis & Infect Prev
المصدر: UK Inherited Retinal Disease Consortium, NIHR BioResource Rare Diseases Consortium, NIHR BioResource Rare Diseases Consortium & NIHR Bioresource – Rare Diseases Consortium 2017, ' Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration ', American journal of human genetics, vol. 100, no. 2, pp. 334-342 . https://doi.org/10.1016/j.ajhg.2016.12.014
American journal of human genetics, vol 100, iss 2
American journal of human genetics, 100(2), 334-342. Cell Press
American Journal of Human Genetics, 100(2), 334-342. Cell Pressمصطلحات موضوعية: Male, 0301 basic medicine, Retinal degeneration, Biallelic Mutation, RHOA, PROTEIN, Eye, Medical and Health Sciences, ACTIVATION, chemistry.chemical_compound, 0302 clinical medicine, 2.1 Biological and endogenous factors, Missense mutation, Exome, Aetiology, Genetics (clinical), Genetics & Heredity, Genetics, biology, Retinal Degeneration, Cell Polarity, MOSAIC EYES, Biological Sciences, Middle Aged, Phenotype, inherited retinal dystrophy, Pedigree, UK Inherited Retinal Disease Consortium, Female, apicobasal polarity, Retinal Dystrophies, Adult, NIHR Bioresource - Rare Diseases Consortium, ARHGEF18, Genotype, Mutation, Missense, Nerve Tissue Proteins, Retina, 03 medical and health sciences, Rare Diseases, retinitis pigmentosa, Report, CRB1, Retinitis pigmentosa, medicine, Humans, Amino Acid Sequence, Eye Proteins, Eye Disease and Disorders of Vision, Alleles, Human Genome, Neurosciences, Genetic Variation, Membrane Proteins, Epithelial Cells, Retinal, CELL FEATURES, medicine.disease, NUCLEOTIDE EXCHANGE FACTOR, p114RhoGEF, 030104 developmental biology, INTEGRATIVE GENOMICS VIEWER, OKO-MEDUZY, chemistry, Mutation, MORPHOGENESIS, 030221 ophthalmology & optometry, biology.protein, Missense, rhoA GTP-Binding Protein, Rho Guanine Nucleotide Exchange Factors, Genome-Wide Association Study
وصف الملف: application/pdf
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المؤلفون: Mohammed E. El-Asrag, Panagiotis I. Sergouniotis, Martin McKibbin, Vincent Plagnol, Eamonn Sheridan, Naushin Waseem, Zakia Abdelhamed, Declan McKeefry, Kristof Van Schil, James A. Poulter, Colin A. Johnson, Ian M. Carr, Bart P. Leroy, Elfride De Baere, Chris F. Inglehearn, Andrew R. Webster, Carmel Toomes, Manir Ali, Graeme Black, Georgina Hall, Stuart Ingram, Rachel Gillespie, Simon Ramsden, Forbes Manson, Alison Hardcastle, Michel Michaelides, Michael Cheetham, Gavin Arno, Niclas Thomas, Shomi Bhattacharya, Tony Moore, Andrea Nemeth, Susan Downes, Stefano Lise, Emma Lord
المصدر: The American Journal of Human Genetics. 96:948-954
مصطلحات موضوعية: Adult, Molecular Sequence Data, Biology, Compound heterozygosity, Frameshift mutation, Macular Degeneration, chemistry.chemical_compound, symbols.namesake, Report, Retinal Dystrophies, Genetics, Humans, Exome, Pakistan, Genetics (clinical), Exome sequencing, Sanger sequencing, Base Sequence, Homozygote, Membrane Proteins, Retinal, Sequence Analysis, DNA, Disease gene identification, Immunohistochemistry, United Kingdom, Pedigree, chemistry, Mutation, symbols
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المؤلفون: Siegfried Wagner, Susan Downes
المصدر: Encyclopedia of Ophthalmology ISBN: 9783642359514
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المؤلفون: Kimberly E. Stepien, Susan Downes
المصدر: Encyclopedia of Ophthalmology ISBN: 9783642359514
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19
المؤلفون: Sally M, Roach, Susan, Downes
المصدر: Rural and remote health. 7(2)
مصطلحات موضوعية: Adult, Travel, Adolescent, Decision Making, Australia, Parturition, Cultural Diversity, Interviews as Topic, Obstetrics, Socioeconomic Factors, Indian Ocean Islands, Pregnancy, Humans, Female, Maternal Health Services, Rural Health Services, Attitude to Health, Maternal Age
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المؤلفون: Susan Downes, Sally M. Roach
المصدر: Rural and Remote Health.
مصطلحات موضوعية: Mainland China, Service (business), Emergency Medical Services, education.field_of_study, Health (social science), Population, Public Health, Environmental and Occupational Health, Medicine (miscellaneous), language.human_language, Indigenous, Indian ocean, Geography, Cultural diversity, Situated, language, Socioeconomics, education, Malay