المؤلفون: Hitti-Malin, Rebekkah, Panneman, Daan, Corradi, Zelia, Boonen, Erica, Astuti, Galuh, Dhaenens, Claire-Marie, Stöhr, Heidi, Weber, Bernhard, Sharon, Dror, Banin, Eyal, Karali, Marianthi, Banfi, Sandro, Ben-Yosef, Tamar, Glavač, Damjan, Farrar, G, Ayuso, Carmen, Liskova, Petra, Dudakova, Lubica, Vajter, Marie, Ołdak, Monika, Szaflik, Jacek, Matynia, Anna, Gorin, Michael, Kämpjärvi, Kati, Bauwens, Miriam, De Baere, Elfride, Hoyng, Carel, Li, Catherina, Klaver, Caroline, Inglehearn, Chris, Fujinami, Kaoru, Rivolta, Carlo, Allikmets, Rando, Zernant, Jana, Lee, Winston, Podhajcer, Osvaldo, Fakin, Ana, Sajovic, Jana, AlTalbishi, Alaa, Valeina, Sandra, Taurina, Gita, Vincent, Andrea, Roberts, Lisa, Ramesar, Raj, Sartor, Giovanna, Luppi, Elena, Downes, Susan, van den Born, L, McLaren, Terri, De Roach, John, Lamey, Tina, Thompson, Jennifer, Chen, Fred, Tracewska, Anna, Kamakari, Smaragda, Sallum, Juliana, Bolz, Hanno, Kayserili, Hülya, Roosing, Susanne, Cremers, Frans

المصدر: Biomolecules. 14(3)

مصطلحات موضوعية: inherited, macula, maculopathies, penetrance, retinal, sequencing, Humans, Mutation, Penetrance, Pedigree, Macular Degeneration, Retina, Phenotype, ATP-Binding Cassette Transporters, Eye Proteins, Cadherin Related Proteins, Nerve Tissue Proteins

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/00w3d2bqTest

المؤلفون: Khan, Kamron N., El-Asrag, Mohammed E., Ku, Cristy A., Holder, Graham E., McKibbin, Martin, Arno, Gavin, Poulter, James A., Carss, Keren, Bommireddy, Tejaswi, Bagheri, Saghar, Bakall, Benjamin, Scholl, Hendrik P., Raymond, F. Lucy, Toomes, Carmel, Inglehearn, Chris F., Pennesi, Mark E., Moore, Anthony T., Michaelides, Michel, Webster, Andrew R., Ali, Manir

مرشدي الرسالة: Univ Arizona, Coll Med, University College London Institute of Ophthalmology, London, United Kingdom 2Inherited Eye Disease Service, Moorfields Eye Hospital, London, United Kingdom 3Section of Ophthalmology and Neuroscience, Leeds Institute of Biomedical and Clinical Sciences, University of Leeds, St. James's University Hospital, Leeds, United Kingdom 4Department of Ophthalmology, St. James's University Hospital, Leeds, United Kingdom, Section of Ophthalmology and Neuroscience, Leeds Institute of Biomedical and Clinical Sciences, University of Leeds, St. James's University Hospital, Leeds, United Kingdom 5Department of Zoology, Faculty of Science, Benha University, Benha, Egypt, Casey Eye Institute, Oregon Health & Science University, Portland, Oregon, United States, University College London Institute of Ophthalmology, London, United Kingdom 2Inherited Eye Disease Service, Moorfields Eye Hospital, London, United Kingdom 7Department of Electrophysiology, Moorfields Eye Hospital, London, United Kingdom, Section of Ophthalmology and Neuroscience, Leeds Institute of Biomedical and Clinical Sciences, University of Leeds, St. James's University Hospital, Leeds, United Kingdom 4Department of Ophthalmology, St. James's University Hospital, Leeds, United Kingdom, University College London Institute of Ophthalmology, London, United Kingdom, Section of Ophthalmology and Neuroscience, Leeds Institute of Biomedical and Clinical Sciences, University of Leeds, St. James's University Hospital, Leeds, United Kingdom, National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom 9Department of Haematology, University of Cambridge, Cambridge, United Kingdom, Department of Ophthalmology, St. James's University Hospital, Leeds, United Kingdom, Wilmer Eye Institute, Johns Hopkins University, Baltimore, Maryland, United States, Associated Retina Consultants, Phoenix, Arizona, United States 12University of Arizona, College of Medicine, Phoenix, Arizona, United States, National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom 13Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, United Kingdom, University College London Institute of Ophthalmology, London, United Kingdom 2Inherited Eye Disease Service, Moorfields Eye Hospital, London, United Kingdom 14Department of Ophthalmology, University of California–San Francisco School of Medicine, San Francisco, California, United States, University College London Institute of Ophthalmology, London, United Kingdom 2Inherited Eye Disease Service, Moorfields Eye Hospital, London, United Kingdom

مصطلحات موضوعية: macular degeneration, retinal dystrophy, DNA sequencing, electroretinography, immunohistology, photoreceptor synapse

الإتاحة: http://hdl.handle.net/10150/624955Test
http://arizona.openrepository.com/arizona/handle/10150/624955Test

المؤلفون: Hany, Ummey, Watson, Christopher M, Liu, Lu, Smith, Claire E L, Harfoush, Asmaa, Poulter, James A, Nikolopoulos, Georgios, Balmer, Richard, Brown, Catriona J, Patel, Anesha, Simmonds, Jenny, Charlton, Ruth, Acosta de Camargo, María Gabriela, Rodd, Helen D, Jafri, Hussain, Antanaviciute, Agne, Moffat, Michelle, Al-Jawad, Maisoon, Inglehearn, Chris F, Mighell, Alan J

مصطلحات موضوعية: Genotype-phenotype correlations

وصف الملف: text/html

العلاقة: http://jmg.bmj.com/cgi/content/short/61/4/347Test; http://dx.doi.org/10.1136/jmg-2023-109510Test

الإتاحة: https://doi.org/10.1136/jmg-2023-109510Test
http://jmg.bmj.com/cgi/content/short/61/4/347Test

المؤلفون: Smith, Claire E L, Laugel-Haushalter, Virginie, Hany, Ummey, Best, Sunayna, Taylor, Rachel L, Poulter, James A, Wortmann, Saskia B, Feichtinger, Rene G, Mayr, Johannes A, Al Bahlani, Suhaila, Nikolopoulos, Georgios, Rigby, Alice, Black, Graeme C, Watson, Christopher M, Mansour, Sahar, Inglehearn, Chris F, Mighell, Alan J, Bloch-Zupan, Agnès

المساهمون: National Program for Clinical Research, University Hospital of Strasbourg, Rosetrees Trust, Fight for Sight UK, Wellcome Trust, Agence Nationale de la Recherche, Interreg, Retina UK, French Ministry of Health, Institute of Advanced Studies, Agence Régionale de Santé Grand Est

المصدر: Journal of Medical Genetics ; volume 61, issue 7, page 689-698 ; ISSN 0022-2593 1468-6244

الإتاحة: https://doi.org/10.1136/jmg-2023-109728Test

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

المصدر: Frontiers in Cell and Developmental Biology. 11

مصطلحات موضوعية: cost-effective, high-throughput, inherited retinal diseases, smMIPs, targeted gene sequencing, Medicin och hälsovetenskap, Medicinska och farmaceutiska grundvetenskaper, Medicinsk genetik, Medical and Health Sciences, Basic Medicine, Medical Genetics

الوصول الحر: https://lup.lub.lu.se/record/1e2c7301-6eec-43e1-8240-1d6d7c81d55cTest
http://dx.doi.org/10.3389/fcell.2023.1112270Test

المؤلفون: Hardcastle, Alison J, Liskova, Petra, Bykhovskaya, Yelena, McComish, Bennet J, Davidson, Alice E, Inglehearn, Chris F, Li, Xiaohui, Choquet, Hélène, Habeeb, Mahmoud, Lucas, Sionne EM, Sahebjada, Srujana, Pontikos, Nikolas, Lopez, Karla E Rojas, Khawaja, Anthony P, Ali, Manir, Dudakova, Lubica, Skalicka, Pavlina, Van Dooren, Bart TH, Geerards, Annette JM, Haudum, Christoph W, Faro, Valeria Lo, Tenen, Abi, Simcoe, Mark J, Patasova, Karina, Yarrand, Darioush, Yin, Jie, Siddiqui, Salina, Rice, Aine, Farraj, Layal Abi, Chen, Yii-Der Ida, Rahi, Jugnoo S, Krauss, Ronald M, Theusch, Elisabeth, Charlesworth, Jac C, Szczotka-Flynn, Loretta, Toomes, Carmel, Meester-Smoor, Magda A, Richardson, Andrea J, Mitchell, Paul A, Taylor, Kent D, Melles, Ronald B, Aldave, Anthony J, Mills, Richard A, Cao, Ke, Chan, Elsie, Daniell, Mark D, Wang, Jie Jin, Rotter, Jerome I, Hewitt, Alex W, MacGregor, Stuart, Klaver, Caroline CW, Ramdas, Wishal D, Craig, Jamie E, Iyengar, Sudha K, O'Brart, David, Jorgenson, Eric, Baird, Paul N, Rabinowitz, Yaron S, Burdon, Kathryn P, Hammond, Chris J, Tuft, Stephen J, Hysi, Pirro G

المصدر: Communications biology. 4(1)

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/59g2q6n6Test

المؤلفون: Panneman, Daan, Roosing, Susanne, Boonen, Erica, Inglehearn, Chris, McKibbin, Martin, De Baere, Elfride, de Ravel, Thomy, Vermeer, Sascha, Vincent, Andrea, Koenekoop, Robert, Cremers, Frans

المصدر: INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE ; ISSN: 0146-0404 ; ISSN: 1552-5783

مصطلحات موضوعية: Medicine and Health Sciences

وصف الملف: application/pdf

العلاقة: https://biblio.ugent.be/publication/01HTY9A9E91FFG43ENSPSJXT69Test; http://hdl.handle.net/1854/LU-01HTY9A9E91FFG43ENSPSJXT69Test; https://biblio.ugent.be/publication/01HTY9A9E91FFG43ENSPSJXT69/file/01HWA78NA0JBKDGNRE7717J0BBTest

الإتاحة: https://biblio.ugent.be/publication/01HTY9A9E91FFG43ENSPSJXT69Test
http://hdl.handle.net/1854/LU-01HTY9A9E91FFG43ENSPSJXT69Test
https://biblio.ugent.be/publication/01HTY9A9E91FFG43ENSPSJXT69/file/01HWA78NA0JBKDGNRE7717J0BBTest

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

المصدر: Molecular Genetics & Genomic Medicine ; volume 11, issue 6 ; ISSN 2324-9269 2324-9269

الإتاحة: https://doi.org/10.1002/mgg3.2164Test

المؤلفون: Yahya, Samar, Watson, Christopher M., Carr, Ian, McKibbin, Martin, Crinnion, Laura A., Taylor, Morag, Bonin, Hope, Fletcher, Tracy, El-Asrag, Mohammed E., Ali, Manir, Toomes, Carmel, Inglehearn, Chris F.

المساهمون: Saudi Arabia Cultural Bureau in London, Fight for Sight UK

المصدر: Molecular Diagnosis & Therapy ; volume 27, issue 4, page 525-535 ; ISSN 1177-1062 1179-2000

مصطلحات موضوعية: Pharmacology, Genetics, Molecular Medicine, General Medicine

الإتاحة: https://doi.org/10.1007/s40291-023-00656-zTest

المؤلفون: Hany, Ummey, Watson, Christopher M, Liu, Lu, Smith, Claire E L, Harfoush, Asmaa, Poulter, James A, Nikolopoulos, Georgios, Balmer, Richard, Brown, Catriona J, Patel, Anesha, Simmonds, Jenny, Charlton, Ruth, Acosta de Camargo, María Gabriela, Rodd, Helen D, Jafri, Hussain, Antanaviciute, Agne, Moffat, Michelle, Al-Jawad, Maisoon, Inglehearn, Chris F, Mighell, Alan J

المساهمون: Rosetrees Trust, Wellcome Trust

المصدر: Journal of Medical Genetics ; volume 61, issue 4, page 347-355 ; ISSN 0022-2593 1468-6244

الإتاحة: https://doi.org/10.1136/jmg-2023-109510Test