المؤلفون: Benjamin McClinton, Laura A. Crinnion, Martin McKibbin, Rajarshi Mukherjee, James A. Poulter, Claire E. L. Smith, Manir Ali, Christopher M. Watson, Chris F. Inglehearn, Carmel Toomes

المصدر: Molecular Genetics & Genomic Medicine, Vol 11, Iss 6, Pp n/a-n/a (2023)

مصطلحات موضوعية: CNGA1, CNGB1, EYS, inherited retinal disease, Nanopore sequencing, PRPF31, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2324-9269Test

الوصول الحر: https://doaj.org/article/30974ac5421d42c3bd08091e0d58f9b9Test

المؤلفون: Daan M. Panneman, Rebekkah J. Hitti-Malin, Lara K. Holtes, Suzanne E. de Bruijn, Janine Reurink, Erica G. M. Boonen, Muhammad Imran Khan, Manir Ali, Sten Andréasson, Elfride De Baere, Sandro Banfi, Miriam Bauwens, Tamar Ben-Yosef, Béatrice Bocquet, Marieke De Bruyne, Berta de la Cerda, Frauke Coppieters, Pietro Farinelli, Thomas Guignard, Chris F. Inglehearn, Marianthi Karali, Ulrika Kjellström, Robert Koenekoop, Bart de Koning, Bart P. Leroy, Martin McKibbin, Isabelle Meunier, Konstantinos Nikopoulos, Koji M. Nishiguchi, James A. Poulter, Carlo Rivolta, Enrique Rodríguez de la Rúa, Patrick Saunders, Francesca Simonelli, Yasmin Tatour, Francesco Testa, Alberta A. H. J. Thiadens, Carmel Toomes, Anna M. Tracewska, Hoai Viet Tran, Hiroaki Ushida, Veronika Vaclavik, Virginie J. M. Verhoeven, Maartje van de Vorst, Christian Gilissen, Alexander Hoischen, Frans P. M. Cremers, Susanne Roosing

المصدر: Frontiers in Cell and Developmental Biology, Vol 11 (2023)

مصطلحات موضوعية: inherited retinal diseases, targeted gene sequencing, cost-effective, high-throughput, smMIPs, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fcell.2023.1112270/fullTest; https://doaj.org/toc/2296-634XTest

الوصول الحر: https://doaj.org/article/70773f087bee4d9ea754539e4fee1ac1Test

المؤلفون: Rachel L. Taylor, Carla Sanjuro Soriano, Simon Williams, Denisa Dzulova, Jane Ashworth, Georgina Hall, Theodora Gale, I. Christopher Lloyd, Chris F. Inglehearn, Carmel Toomes, Sofia Douzgou, Graeme C. Black

المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-8 (2022)

مصطلحات موضوعية: CTNNB1, Beta-catenin, Recessive, Syndromic, Microphthalmia, Vitreoretinal dysplasia, Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/2729b06421b1449e9a93f464605a0f3cTest

المؤلفون: Alison J. Hardcastle, Petra Liskova, Yelena Bykhovskaya, Bennet J. McComish, Alice E. Davidson, Chris F. Inglehearn, Xiaohui Li, Hélène Choquet, Mahmoud Habeeb, Sionne E. M. Lucas, Srujana Sahebjada, Nikolas Pontikos, Karla E. Rojas Lopez, Anthony P. Khawaja, Manir Ali, Lubica Dudakova, Pavlina Skalicka, Bart T. H. Van Dooren, Annette J. M. Geerards, Christoph W. Haudum, Valeria Lo Faro, Abi Tenen, Mark J. Simcoe, Karina Patasova, Darioush Yarrand, Jie Yin, Salina Siddiqui, Aine Rice, Layal Abi Farraj, Yii-Der Ida Chen, Jugnoo S. Rahi, Ronald M. Krauss, Elisabeth Theusch, Jac C. Charlesworth, Loretta Szczotka-Flynn, Carmel Toomes, Magda A. Meester-Smoor, Andrea J. Richardson, Paul A. Mitchell, Kent D. Taylor, Ronald B. Melles, Anthony J. Aldave, Richard A. Mills, Ke Cao, Elsie Chan, Mark D. Daniell, Jie Jin Wang, Jerome I. Rotter, Alex W. Hewitt, Stuart MacGregor, Caroline C. W. Klaver, Wishal D. Ramdas, Jamie E. Craig, Sudha K. Iyengar, David O’Brart, Eric Jorgenson, Paul N. Baird, Yaron S. Rabinowitz, Kathryn P. Burdon, Chris J. Hammond, Stephen J. Tuft, Pirro G. Hysi

المصدر: Communications Biology, Vol 4, Iss 1, Pp 1-13 (2021)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2399-3642Test

الوصول الحر: https://doaj.org/article/6eed77457b784436985e138a87c60544Test

المؤلفون: Benjamin Mc Clinton, Zelia Corradi, Martin McKibbin, Daan M. Panneman, Susanne Roosing, Erica G. M. Boonen, Manir Ali, Christopher M. Watson, David H. Steel, Frans P. M. Cremers, Chris F. Inglehearn, Rebekkah J. Hitti-Malin, Carmel Toomes

المصدر: Genes, Vol 14, Iss 1, p 191 (2023)

مصطلحات موضوعية: maculopathies, ABCA4, Stargardt, smMIPs, inherited retinal diseases, NGS, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2073-4425/14/1/191Test; https://doaj.org/toc/2073-4425Test

الوصول الحر: https://doaj.org/article/8f53b9d7c7c448a69d40c1aab70fb100Test

المؤلفون: Samuel J. Burgess, Hannah Gibbs, Carmel Toomes, Patricia L. Coletta, Sandra M. Bell

المصدر: Genes, Vol 12, Iss 2, p 162 (2021)

مصطلحات موضوعية: Csmd1, mammary gland development, epithelial mesenchymal transition, terminal end bud, extracellular matrix, Fak, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2073-4425/12/2/162Test; https://doaj.org/toc/2073-4425Test

الوصول الحر: https://doaj.org/article/3b3b5cd0cae440d3b4a8f4500a56c58dTest

المؤلفون: Zakia A. Abdelhamed, Subaashini Natarajan, Gabrielle Wheway, Christopher F. Inglehearn, Carmel Toomes, Colin A. Johnson, Daniel J. Jagger

المصدر: Disease Models & Mechanisms, Vol 8, Iss 6, Pp 527-541 (2015)

مصطلحات موضوعية: TMEM67, Meckelin, MKS3, Wnt signalling, Planar cell polarity, PCP, Stereocilia, Kinocilia, Primary cilia, Hair bundle, Ciliopathy, Medicine, Pathology, RB1-214

وصف الملف: electronic resource

العلاقة: http://dmm.biologists.org/content/8/6/527Test; https://doaj.org/toc/1754-8411Test; https://doaj.org/toc/1754-8403Test

الوصول الحر: https://doaj.org/article/c2ccea26d47b400d98e3ee479bab47c3Test

المؤلفون: Galuh D. N. Astuti, L. Ingeborgh van den Born, M. Imran Khan, Christian P. Hamel, Béatrice Bocquet, Gaël Manes, Mathieu Quinodoz, Manir Ali, Carmel Toomes, Martin McKibbin, Mohammed E. El-Asrag, Lonneke Haer-Wigman, Chris F. Inglehearn, Graeme C. M. Black, Carel B. Hoyng, Frans P. M. Cremers, Susanne Roosing

المصدر: Genes, Vol 9, Iss 1, p 21 (2018)

مصطلحات موضوعية: whole exome sequencing, inherited retinal diseases, candidate retinal disease genes, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://www.mdpi.com/2073-4425/9/1/21Test; https://doaj.org/toc/2073-4425Test

الوصول الحر: https://doaj.org/article/62888b7ff2e64a29baaef9fe89864e05Test

المؤلفون: Christopher M Watson, Mohammed El-Asrag, David A Parry, Joanne E Morgan, Clare V Logan, Ian M Carr, Eamonn Sheridan, Ruth Charlton, Colin A Johnson, Graham Taylor, Carmel Toomes, Martin McKibbin, Chris F Inglehearn, Manir Ali

المصدر: PLoS ONE, Vol 9, Iss 8, p e104281 (2014)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

العلاقة: http://europepmc.org/articles/PMC4136783?pdf=renderTest; https://doaj.org/toc/1932-6203Test

الوصول الحر: https://doaj.org/article/90cf5e0403ae4c868eed24f25f38499bTest

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. 68-76

مصطلحات 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

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::507827933b913ead226b13ff8c186891Test
https://doi.org/10.1016/j.ophtha.2022.07.023Test