المؤلفون: Peter M. Quinn, Thilo M. Buck, Aat A. Mulder, Charlotte Ohonin, C. Henrique Alves, Rogier M. Vos, Monika Bialecka, Tessa van Herwaarden, Elon H.C. van Dijk, Mays Talib, Christian Freund, Harald M.M. Mikkers, Rob C. Hoeben, Marie-José Goumans, Camiel J.F. Boon, Abraham J. Koster, Susana M. Chuva de Sousa Lopes, Carolina R. Jost, Jan Wijnholds

المصدر: Stem Cell Reports, Vol 12, Iss 5, Pp 906-919 (2019)

مصطلحات موضوعية: Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2213671119300876; https://doaj.org/toc/2213-6711

URL الوصول: https://doaj.org/article/67c05bc391cb49d7ae515f5b1d33c590

المؤلفون: Céline Koster, Koen T. van den Hurk, Colby F. Lewallen, Mays Talib, Jacoline B. ten Brink, Camiel J. F. Boon, Arthur A. Bergen

المصدر: International Journal of Molecular Sciences, Vol 22, Iss 13, p 7234 (2021)

مصطلحات موضوعية: lecithin retinol acyltransferase (LRAT), pigmented rat model, retinal pigment epithelium (RPE), retinal degeneration, retinal dystrophy, retinitis pigmentosa, Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

Relation: https://www.mdpi.com/1422-0067/22/13/7234; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067

URL الوصول: https://doaj.org/article/1c96926a078047bb8393157f0583eab5

المؤلفون: Xuan-Thanh-An Nguyen, Mays Talib, Mary J. van Schooneveld, Joost Brinks, Jacoline ten Brink, Ralph J. Florijn, Jan Wijnholds, Robert M. Verdijk, Arthur A. Bergen, Camiel J.F. Boon

المصدر: International Journal of Molecular Sciences, Vol 21, Iss 3, p 835 (2020)

مصطلحات موضوعية: retinitis pigmentosa, retinitis pigmentosa gtpase regulator (rpgr), cone-rod dystrophy, histopathology, retinal dystrophies, natural history, genotype-phenotype, Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

Relation: https://www.mdpi.com/1422-0067/21/3/835; https://doaj.org/toc/1422-0067

URL الوصول: https://doaj.org/article/5297cec09d0f4c609f4c4a5383a7e76b

المؤلفون: Mays Talib, Leonoor S. Koetsier, Robert E. MacLaren, Camiel J.F. Boon

المصدر: Genes, Vol 8, Iss 7, p 187 (2017)

مصطلحات موضوعية: CHM, choroideremia, macular hole, vitrectomy, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2073-4425/8/7/187; https://doaj.org/toc/2073-4425

URL الوصول: https://doaj.org/article/d67ac6750d9b4bbb874dec3b6f2024a2

المؤلفون: Alberta A H J Thiadens, Carel B. Hoyng, Marta Fiocco, Magda A. Meester-Smoor, Maria M. van Genderen, Herman E Talsma, Camiel J. F. Boon, L. Ingeborgh van den Born, Jan Wijnholds, Jacoline B. ten Brink, Frans P.M. Cremers, Arthur A.B. Bergen, Mary J. van Schooneveld, Ralph J. Florijn, Xuan-Thanh-An Nguyen, Caroline C W Klaver, Nicoline E. Schalij-Delfos, Mays Talib

المساهمون: Netherlands Institute for Neuroscience (NIN), Ophthalmology, Human Genetics, ANS - Complex Trait Genetics, ARD - Amsterdam Reproduction and Development, Epidemiology

المصدر: American Journal of Ophthalmology, 234, 37-48. Elsevier USA
American journal of ophthalmology, 234, 37-48. Elsevier USA
American Journal of Ophthalmology, 234, 37-48. Elsevier Inc.

مصطلحات موضوعية: medicine.medical_specialty, Visual acuity, genetic structures, Nerve Tissue Proteins, Retina, chemistry.chemical_compound, SDG 3 - Good Health and Well-being, Ophthalmology, Retinitis pigmentosa, Retinal Dystrophies, medicine, Electroretinography, Humans, Eye Proteins, medicine.diagnostic_test, business.industry, Fundus photography, Membrane Proteins, Retinal, Diabetic retinopathy, Macular dystrophy, medicine.disease, eye diseases, chemistry, Visual Field Tests, sense organs, medicine.symptom, Visual Fields, business, Microperimetry, Retinitis Pigmentosa, Tomography, Optical Coherence

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5afce13119718639c0ccffb6d6f9b4b9
https://doi.org/10.1016/j.ajo.2021.07.021

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

المؤلفون: Camiel J. F. Boon, Arthur A.B. Bergen, Céline Koster, Jacoline B. ten Brink, Colby F. Lewallen, Koen T van den Hurk, Mays Talib

المساهمون: Graduate School, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Reproduction & Development (AR&D), Human Genetics, Ophthalmology, Netherlands Institute for Neuroscience (NIN)

المصدر: International Journal of Molecular Sciences
Volume 22
Issue 13
International Journal of Molecular Sciences, 22(13). MDPI
International Journal of Molecular Sciences, Vol 22, Iss 7234, p 7234 (2021)
International journal of molecular sciences, 22(13):7234. Multidisciplinary Digital Publishing Institute (MDPI)
International Journal of Molecular Sciences, 22(13). Multidisciplinary Digital Publishing Institute (MDPI)

مصطلحات موضوعية: Male, 0301 basic medicine, Retinal degeneration, Knockout rat, genetic structures, pigmented rat model, Gene Knockout Techniques, Mice, chemistry.chemical_compound, 0302 clinical medicine, retinal pigment epithelium (RPE), Biology (General), Spectroscopy, Sequence Deletion, Behavior, Animal, medicine.diagnostic_test, General Medicine, Computer Science Applications, Chemistry, Female, Rats, Transgenic, Erg, Tomography, Optical Coherence, Retinal Dystrophies, lecithin retinol acyltransferase (LRAT), QH301-705.5, Biology, Article, Catalysis, Inorganic Chemistry, 03 medical and health sciences, retinitis pigmentosa, Retinitis pigmentosa, Electroretinography, medicine, Animals, Humans, RNA, Messenger, Physical and Theoretical Chemistry, retinal dystrophy, QD1-999, Molecular Biology, Vision, Ocular, Organic Chemistry, Retinal, medicine.disease, Molecular biology, Rats, Ophthalmoscopy, Disease Models, Animal, 030104 developmental biology, chemistry, 030221 ophthalmology & optometry, retinal degeneration, CRISPR-Cas Systems, Lecithin retinol acyltransferase, Acyltransferases

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64571977a3bcb5ae34d45e144511539c
https://hdl.handle.net/1887/3213228

المؤلفون: Caroline Van Cauwenbergh, David Van Wynsberghe, Julie De Zaeytijd, Mays Talib, Camiel J. F. Boon, Elfride De Baere, Bart P. Leroy

المساهمون: Ophthalmology, ANS - Complex Trait Genetics

المصدر: British journal of ophthalmology, 106(5), 696-704. BMJ Publishing Group
British Journal of Ophthalmology. BMJ PUBLISHING GROUP
British Journal of Ophthalmology

مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, retina, Retinal Disorder, Visual acuity, genetic structures, 030105 genetics & heredity, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Retinitis pigmentosa, Medicine, Medical history, genetics, CRB1, business.industry, Retrospective cohort study, Macular dystrophy, medicine.disease, Sensory Systems, eye diseases, Ophthalmology, dystrophy, 030221 ophthalmology & optometry, sense organs, medicine.symptom, business, Retinal Dystrophies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df59dcc2620d50d5e0a13fbd06aa2083
https://hdl.handle.net/1887/3274167

المؤلفون: Alberta A H J Thiadens, Nicoline E. Schalij-Delfos, Arthur A.B. Bergen, Carel B. Hoyng, Magda A. Meester-Smoor, L. Ingeborgh van den Born, Mary J. van Schooneveld, Camiel J. F. Boon, Jacoline B. ten Brink, Maria M. van Genderen, Ralph J. Florijn, Jan Wijnholds, Herman E Talsma, Frans P.M. Cremers, Mays Talib

المساهمون: Netherlands Institute for Neuroscience (NIN), Human Genetics, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Reproduction & Development (AR&D), Ophthalmology

المصدر: Acta Ophthalmologica (2008), 99, e402-e414
Acta Ophthalmologica, 99, e402-e414. Wiley-Blackwell
Acta Ophthalmologica
Acta Ophthalmologica, 99(3), E402-E414. WILEY
Acta Ophthalmologica (2008), 99, 3, pp. e402-e414
Acta ophthalmologica, 99(3), e402-e414. Copenhagen Scriptor
Acta Ophthalmologica, 99(3), e402-e414. Wiley-Blackwell Publishing Ltd

مصطلحات موضوعية: retina, Visual acuity, genetic structures, Visual Acuity, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], chemistry.chemical_compound, 0302 clinical medicine, Prospective Studies, Child, Clinical Trials as Topic, medicine.diagnostic_test, General Medicine, Macular dystrophy, Middle Aged, gene therapy, Phenotype, Disease Progression, Original Article, medicine.symptom, Retinal Dystrophies, Adult, medicine.medical_specialty, Adolescent, Endpoint Determination, Nerve Tissue Proteins, 03 medical and health sciences, Young Adult, Ophthalmology, retinitis pigmentosa, Retinitis pigmentosa, medicine, Humans, retinal dystrophy, Eye Proteins, Aged, business.industry, Patient Selection, Membrane Proteins, Retinal, Original Articles, medicine.disease, eye diseases, Cross-Sectional Studies, chemistry, 030221 ophthalmology & optometry, Maculopathy, sense organs, business, Microperimetry, 030217 neurology & neurosurgery, Electroretinography

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::821e774d78c14cefa78f4744e2e23a21
https://hdl.handle.net/1887/3274152

المؤلفون: Gislin Dagnelie, Ralph J. Florijn, Caroline Van Cauwenbergh, Maria M. van Genderen, Alberta A H J Thiadens, Mays Talib, Nicoline E. Schalij-Delfos, Jan Wijnholds, Julie De Zaeytijd, Camiel J. F. Boon, Mary J. van Schooneveld, Caroline C W Klaver, Irina Balikova, Elfride De Baere, Marta Fiocco, Carel B. Hoyng, Magda A. Meester-Smoor, Xuan Thanh An Nguyen, Arthur A.B. Bergen, L. Ingeborgh van den Born, Jacoline B. ten Brink, Bart P. Leroy

المساهمون: Ophthalmology, Epidemiology, Human Genetics, ANS - Complex Trait Genetics, ARD - Amsterdam Reproduction and Development, Netherlands Institute for Neuroscience (NIN)

المصدر: Retina-The Journal of Retinal and Vitreous Diseases, 41, 1, pp. 213-223
Retina (Philadelphia, Pa ), 41(1), 213-223
RETINA, The Journal of Retinal and Vitreous Diseases, 41(1), 213-223. LIPPINCOTT WILLIAMS & WILKINS
Retina-The Journal of Retinal and Vitreous Diseases, 41, 213-223
Retina (Philadelphia, Pa.), 41(1), 213-223. Lippincott Williams and Wilkins
Retina, 41, 213-223. Lippincott Williams & Wilkins
RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES
RETINA, The Journal of Retinal and Vitreous Diseases

مصطلحات موضوعية: 0301 basic medicine, Male, Visual acuity, genetic structures, Visual Acuity, Retinal Pigment Epithelium, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], chemistry.chemical_compound, 0302 clinical medicine, Medicine and Health Sciences, sector retinitis pigmentosa, General Medicine, Middle Aged, Natural history, Phenotype, natural history, Female, medicine.symptom, Tomography, Optical Coherence, medicine.medical_specialty, Long term follow up, inherited retinal dystrophies, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, Ophthalmology, retinitis pigmentosa, Retinitis pigmentosa, medicine, Electroretinography, Humans, In patient, Aged, Retrospective Studies, Surrogate endpoint, business.industry, Retinal, medicine.disease, eye diseases, Low vision, 030104 developmental biology, chemistry, rhodopsin, 030221 ophthalmology & optometry, sense organs, Visual Fields, business, Acute-Phase Proteins, Follow-Up Studies, Forecasting

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6c86c4644c4a1c8e582729bac6e0c3d
https://hdl.handle.net/1887/3213080