المؤلفون: Janine Reurink, Nicole Weisschuh, Alejandro Garanto, Adrian Dockery, L. Ingeborgh van den Born, Isabelle Fajardy, Lonneke Haer-Wigman, Susanne Kohl, Bernd Wissinger, G. Jane Farrar, Tamar Ben-Yosef, Fatma Kivrak Pfiffner, Wolfgang Berger, Marianna E. Weener, Lubica Dudakova, Petra Liskova, Dror Sharon, Manar Salameh, Ashley Offenheim, Elise Heon, Giorgia Girotto, Paolo Gasparini, Anna Morgan, Arthur A. Bergen, Jacoline B. ten Brink, Caroline C.W. Klaver, Lisbeth Tranebjærg, Nanna D. Rendtorff, Sascha Vermeer, Jeroen J. Smits, Ronald J.E. Pennings, Marco Aben, Jaap Oostrik, Galuh D.N. Astuti, Jordi Corominas Galbany, Hester Y. Kroes, Milan Phan, Wendy A.G. van Zelst-Stams, Alberta A.H.J. Thiadens, Joke B.G.M. Verheij, Mary J. van Schooneveld, Suzanne E. de Bruijn, Catherina H.Z. Li, Carel B. Hoyng, Christian Gilissen, Lisenka E.L.M. Vissers, Frans P.M. Cremers, Hannie Kremer, Erwin van Wijk, Susanne Roosing

المصدر: HGG Advances, Vol 4, Iss 2, Pp 100181- (2023)

مصطلحات موضوعية: USH2A, Usher syndrome, retinitis pigmentosa, usherin, whole genome sequencing, minigene splice assay, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666247723000131; https://doaj.org/toc/2666-2477

URL الوصول: https://doaj.org/article/3a1d6bbbc0b84a3f9409fc1710e756ce

المؤلفون: Xuan-Thanh-An Nguyen, Alberta A.H.J. Thiadens, Marta Fiocco, Weijen Tan, Martin McKibbin, Caroline C.W. Klaver, Magda A. Meester-Smoor, Caroline Van Cauwenbergh, Ine Strubbe, Andrea Vergaro, Jan-Willem R. Pott, Carel B. Hoyng, Bart P. Leroy, Reda Zemaitiene, Kamron N. Khan, Camiel J.F. Boon

المساهمون: Ophthalmology, ANS - Complex Trait Genetics

المصدر: American journal of ophthalmology, 246, 1-9. Elsevier USA
American Journal of Ophthalmology, 246, pp. 1-9
American Journal of Ophthalmology, 246, 1-9
American Journal of Ophthalmology, 246, 1-9. Elsevier Inc.
American journal of ophthalmology, 246, 1-9. ELSEVIER SCIENCE INC
AMERICAN JOURNAL OF OPHTHALMOLOGY

مصطلحات موضوعية: Ophthalmology, All institutes and research themes of the Radboud University Medical Center, Medicine and Health Sciences, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12]

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::964ac5d258c2c03ea1d9d74f77863a77
https://doi.org/10.1016/j.ajo.2022.10.001

المؤلفون: Leo C. Hahn, Michalis Georgiou, Hind Almushattat, Mary J. van Schooneveld, Emanuel R. de Carvalho, Nieneke L. Wesseling, Jacoline B. ten Brink, Ralph J. Florijn, Birgit I. Lissenberg-Witte, Ine Strubbe, Caroline van Cauwenbergh, Julie de Zaeytijd, Sophie Walraedt, Elfride de Baere, Rajarshi Mukherjee, Martin McKibbin, Magda A. Meester-Smoor, Alberta A.H.J. Thiadens, Saoud Al-Khuzaei, Engin Akyol, Andrew J. Lotery, Maria M. van Genderen, Jeannette Ossewaarde-van Norel, L. Ingeborgh van den Born, Carel B. Hoyng, Caroline C.W. Klaver, Susan M. Downes, Arthur A. Bergen, Bart P. Leroy, Michel Michaelides, Camiel J.F. Boon

المساهمون: Ophthalmology, Adult Psychiatry, Human Genetics, ANS - Complex Trait Genetics, ARD - Amsterdam Reproduction and Development, Epidemiology and Data Science, APH - Methodology, Human genetics, Netherlands Institute for Neuroscience (NIN)

المصدر: Ophthalmology Retina, 6, 711-722
Ophthalmology Retina, 6(8), 711-722. Elsevier Inc.
Ophthalmology Retina, 6, 8, pp. 711-722
OPHTHALMOLOGY RETINA
Hahn, L C, Georgiou, M, Almushattat, H, van Schooneveld, M J, de Carvalho, E R, Wesseling, N L, ten Brink, J B, Florijn, R J, Lissenberg-Witte, B I, Strubbe, I, van Cauwenbergh, C, de Zaeytijd, J, Walraedt, S, de Baere, E, Mukherjee, R, McKibbin, M, Meester-Smoor, M A, Thiadens, A A H J, Al-Khuzaei, S, Akyol, E, Lotery, A J, van Genderen, M M, Ossewaarde-van Norel, J, van den Born, L I, Hoyng, C B, Klaver, C C W, Downes, S M, Bergen, A A, Leroy, B P, Michaelides, M & Boon, C J F 2022, ' The Natural History of Leber Congenital Amaurosis and Cone–Rod Dystrophy Associated with Variants in the GUCY2D Gene ', Ophthalmology Retina, vol. 6, no. 8, pp. 711-722 . https://doi.org/10.1016/j.oret.2022.03.008
Ophthalmology Retina, 6, 711-722. Elsevier Inc.
OPHTHALMOLOGY RETINA, 6(8), 711-722. ELSEVIER INC

مصطلحات موضوعية: genetic structures, Cone-rod dystrophy, Inherited retinal dystrophies, Vision Disorders, Visual Acuity, BIOSTATISTICS, PHENOTYPE, EYE, Leber congenital amaurosis, eye diseases, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Cone–rod dystrophy, Ophthalmology, VISION, TRIALS, Phenotype, GUCY2D, Medicine and Health Sciences, Humans, sense organs, TUTORIAL, MUTATION, Cone-Rod Dystrophies, Retrospective Studies

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::046baa46cd2205c2b17d8f2c267485ad
https://doi.org/10.1016/j.oret.2022.03.008

المؤلفون: Ralph Mazijk, Annechien E.G. Haarman, Lies H. Hoefsloot, Jan R. Polling, Marianne Tienhoven, Caroline C.W. Klaver, Virginie J.M. Verhoeven, Sjoukje E. Loudon, Alberta A.H.J. Thiadens, Anneke J.A. Kievit

المساهمون: Clinical Genetics, Ophthalmology, Epidemiology

المصدر: Human Mutation, 43, 380-388
Human Mutation, 43(3), 380-388. Wiley-Liss Inc.
Human Mutation, 43, 3, pp. 380-388

مصطلحات موضوعية: genetic structures, Arrestins, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], eye diseases, Pedigree, Cohort Studies, Genes, X-Linked, Mutation, Exome Sequencing, Genetics, Myopia, Humans, Female, Genetics (clinical)

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90fd44e160c701c271b2469134c3c66f
http://www.scopus.com/inward/record.url?scp=85122888957&partnerID=8YFLogxK

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

المساهمون: MUMC+: DA KG Lab Informatica en BIO (9), RS: FHML non-thematic output, 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, Thoma, Inglehearn, Chris F., Karali, Marianthi, Kjellström, Ulrika, Koenekoop, Robert, de Koning, Bart, Leroy, Bart P., Mckibbin, Martin, Meunier, Isabelle, Nikopoulos, Konstantino, 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
Frontiers in Cell and Developmental Biology, 11
Frontiers in Cell and Developmental Biology, 11:1112270. Frontiers Media SA

مصطلحات موضوعية: Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], targeted gene sequencing, MUTATIONS, cost-effective, inherited retinal diseases, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], Biology and Life Sciences, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Cell Biology, VARIANTS, RETINAL DYSTROPHY, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], All institutes and research themes of the Radboud University Medical Center, smMIPs, high-throughput, Developmental Biology

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8aec627be4588a73a848b3a7c8c360fb
https://biblio.ugent.be/publication/01GVJA0VVJHFHX3RE1AKYTKF7D/file/01GYYXP39JV4X77Y2TBM77VTMW

المؤلفون: Laura E.M. Eurelings, Tom O.A.R. Missotten, Mirjam E.J. van Velthoven, Paul L.A. van Daele, Jan A.M. van Laar, P. Martin van Hagen, Alberta A.H.J. Thiadens, Saskia M. Rombach

المساهمون: Internal Medicine, Immunology, Ophthalmology

المصدر: American Journal of Ophthalmology, 240, 194-204. Elsevier Inc.

مصطلحات موضوعية: Cohort Studies, Uveitis, Ophthalmology, Treatment Outcome, Drug-Related Side Effects and Adverse Reactions, Adalimumab, Humans, Neoplasm Recurrence, Local, Follow-Up Studies, Retrospective Studies

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77de8944d8f38f0d02bc7da126806050
https://pure.eur.nl/en/publications/543913ed-a8d3-4091-a1ce-f4198cf393eb

المؤلفون: Tomas S. Aleman, Patrizia Amati-Bonneau, Benoît Arveiler, Jane L. Ashworth, Isabelle Audo, Giacomo M. Bacci, Nicole Balducci, Irina Balikova, Miriam Bauwens, Piero Barboni, Johannes Birtel, Susmito Biswas, Graeme C.M. Black, Catherine Blanchet, Béatrice Bocquet, Camiel J.F. Boon, Antoine Brézin, Cyril Burin des Roziers, Emma Burkitt-Wright, Michele Callea, Michele Carbonelli, Valerio Carelli, Jasmina Cehajic-Kapetanovic, Kate E. Chandler, Aman Chandra, Jill Clayton-Smith, Johanna M. Colijn, Frauke Coppieters, Catherine A. Cukras, Avril Daly, Elfride De Baere, Julie De Zaeytijd, Arundhati Dev Borman, Hélène Dollfus, Sofia Douzgou Houge, Elizabeth C. Engle, Pascal Escher, D. Gareth Evans, Kristina Teär Fahnehjelm, Christina Fasser, Mathieu Fiore, Kaoru Fujinami, Yu Fujinami-Yokokawa, Brenda L. Gallie, Michalis Georgiou, Martin Gliem, Monika K. Grudzinska Pechhacker, Georgina Hall, Wolf M. Harmening, Robert H. Henderson, Elise Héon, Nashila Hirji, Frank G. Holz, Laryssa A. Huryn, Elizabeth A. Jones, Vasiliki Kalatzis, Arif O. Khan, Ungsoo S. Kim, Caroline C.W. Klaver, Neruban Kumaran, Chiara La Morgia, Fiona Lalloo, Eulalie Lasseaux, Helena Lee, Guy Lenaers, Eva Lenassi, Bart P. Leroy, Petra Liskova, I. Christopher Lloyd, Robert E. MacLaren, Omar A. Mahroo, Alvaro J. Mejia-Vergara, Isabelle Meunier, Michel Michaelides, Anthony T. Moore, Mariya Moosajee, Fanny Morice-Picard, Francis L. Munier, Magella M. Neveu, Erin C. O'Neil, Anna Nordenström, Neil R.A. Parry, Maria I. Patrício, Manoj V. Parulekar, Dipak Ram, Simon C. Ramsden, Johane Robitaille, Anthony G. Robson, Pierre-Raphaël Rothschild, Alfredo A. Sadun, Kaspar Schuerch, Miguel C. Seabra, Jay E. Self, Panagiotis I. Sergouniotis, Fadi Shaya, Paul A. Sieving, Ine Strubbe, Francesca Simonelli, Kent W. Small, Martin P. Snead, Karolina M. Stepien, Mays Talib, Rachel L. Taylor, Francesco Testa, Alberta A.H.J. Thiadens, Elias I. Traboulsi, Viet H. Tran, Veronika Vaclavik, Sophie Valleix, Caroline Van Cauwenbergh, Kristof Van Schil, Mary C. Whitman, Colin E. Willoughby, Kanmin Xue, Jingyan Yang, Patrick Yu-Wai-Man, Christina Zeitz, Martin Zinkernagel

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::443fea97f8aa209eb7749fe6b0bb2a99
https://doi.org/10.1016/b978-0-12-813944-8.09991-1