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1Academic Journal
المؤلفون: Neijzen, Catelijne M., de Wit, Femke M., Hettinga, Ymkje M., de Boer, Joke H., van Genderen, Maria M., de Wit, Gerard C.
المصدر: Acta Ophthalmologica ; ISSN 1755-375X 1755-3768
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2Academic Journal
المؤلفون: Moekotte, Lude, de Boer, Joke H., Hiddingh, Sanne, Gerritsen, Bram, Lintelmann, Jutta, Cecil, Alexander, Ingeborgh van den Born, L., Nguyen, Xuan-Thanh-An, Boon, Camiel J.F., van Genderen, Maria M., Kuiper, Jonas J.W.
المصدر: Ophthalmology Science ; page 100704 ; ISSN 2666-9145
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3Book
المؤلفون: Haer-Wigman, Lonneke, den Ouden, Amber, Derks, Ronny, van Genderen, Maria M., Lugtenberg, Dorien, Verheij, Joke, Vijzelaar, Raymon, Yntema, Helger G., Vissers, Lisenka E.L.M., Neveling, Kornelia
المساهمون: Zorgeenheid Oogheelkunde Medisch, Child Health
مصطلحات موضوعية: Molecular Biology, Genetics, Genetics(clinical)
وصف الملف: application/pdf
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4Academic Journal
المؤلفون: de Muijnck, Cansu, Haer-Wigman, Lonneke, van Everdingen, Judith A.M., Lushchyk, Tanya, Heutinck, Pam A.T., van Dooren, Marieke F., Kievit, Anneke J.A., Verhoeven, Virginie J.M., Simon, Marleen E.H., Wasmann, Rosemarie A., Notting, Irene C., De Baere, Elfride, Walraedt, Sophie, De Zaeytijd, Julie, Van den Broeck, Filip, Leroy, Bart P., Boon, Camiel J.F., van Genderen, Maria M.
المصدر: de Muijnck , C , Haer-Wigman , L , van Everdingen , J A M , Lushchyk , T , Heutinck , P A T , van Dooren , M F , Kievit , A J A , Verhoeven , V J M , Simon , M E H , Wasmann , R A , Notting , I C , De Baere , E , Walraedt , S , De Zaeytijd , J , Van den Broeck , F , Leroy , B P , Boon , C J F & van Genderen , M M 2024 , ' ....
مصطلحات موضوعية: DOA, Inherited optic neuropathy, OPA1, Optic atrophy, WFS1
وصف الملف: application/pdf
الاتاحة: https://hdl.handle.net/11370/556c2e95-f9a3-4828-bca6-35e54b8acc78
https://research.rug.nl/en/publications/556c2e95-f9a3-4828-bca6-35e54b8acc78
https://doi.org/10.1038/s41598-024-74364-x
https://pure.rug.nl/ws/files/1158637605/s41598-024-74364-x.pdf
http://www.scopus.com/inward/record.url?scp=85205606123&partnerID=8YFLogxK -
5Academic Journal
المؤلفون: Heutinck, Pam A.T., van den Born, L. Ingeborgh, Vermeer, Maikel, Iglesias Gonzales, Adriana I., Hoyng, Carel B., Pott, Jan Willem R., Kroes, Hester Y., van Schooneveld, Mary J., Boon, Camiel J.F., van Genderen, Maria M., Plomp, Astrid S., de Jong-Hesse, Yvonne, van Egmond-Ebbeling, Michelle B., Hoefsloot, Lies H., Bergen, Arthur A., Klaver, Caroline C.W., Meester-Smoor, Magda A., Thiadens, Alberta A.H.J., Verhoeven, Virginie J.M.
المصدر: Heutinck , P A T , van den Born , L I , Vermeer , M , Iglesias Gonzales , A I , Hoyng , C B , Pott , J W R , Kroes , H Y , van Schooneveld , M J , Boon , C J F , van Genderen , M M , Plomp , A S , de Jong-Hesse , Y , van Egmond-Ebbeling , M B , Hoefsloot , L H , Bergen , A A , Klaver , C C W , Meester-Smoor , M A , Thiadens , A A H ....
مصطلحات موضوعية: gene therapy, inherited retinal dystrophy, pediatric
وصف الملف: application/pdf
الاتاحة: https://hdl.handle.net/11370/ef8db0e7-f4ab-4722-9944-4cb675a7a242
https://research.rug.nl/en/publications/ef8db0e7-f4ab-4722-9944-4cb675a7a242
https://doi.org/10.1167/iovs.65.10.40
https://pure.rug.nl/ws/files/1134433053/i1552-5783-65-10-40_1724923167.7508.pdf
http://www.scopus.com/inward/record.url?scp=85202551727&partnerID=8YFLogxK -
6Academic Journal
المؤلفون: Heutinck, Pam A.T., van den Born, L. Ingeborgh, Vermeer, Maikel, Iglesias Gonzales, Adriana I., Hoyng, Carel B., Pott, Jan Willem R., Kroes, Hester Y., van Schooneveld, Mary J., Boon, Camiel J.F., van Genderen, Maria M., Plomp, Astrid S., de Jong-Hesse, Yvonne, van Egmond-Ebbeling, Michelle B., Hoefsloot, Lies H., A Bergen, Arthur, Klaver, Caroline C.W., Meester-Smoor, Magda A., Thiadens, Alberta A.H.J., Verhoeven, Virginie J.M.
المساهمون: Genetica Klinische Genetica, Child Health, Zorgeenheid Oogheelkunde Medisch, MS Oogheelkunde
مصطلحات موضوعية: Ophthalmology, Sensory Systems, Cellular and Molecular Neuroscience
وصف الملف: application/pdf
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7Academic Journal
المؤلفون: Haer-Wigman, Lonneke, den Ouden, Amber, Derks, Ronny, van Genderen, Maria M., Lugtenberg, Dorien, Verheij, Joke, Vijzelaar, Raymon, Yntema, Helger G., Vissers, Lisenka E.L.M., Neveling, Kornelia
المصدر: Haer-Wigman , L , den Ouden , A , Derks , R , van Genderen , M M , Lugtenberg , D , Verheij , J , Vijzelaar , R , Yntema , H G , Vissers , L E L M & Neveling , K 2024 , ' Reply to : Pitfalls in the genetic testing of the OPN1LW-OPN1MW gene cluster in human subjects ' , npj Genomic Medicine , vol. 9 , no. 1 , 29 . https://doi.org/10.1038/s41525-024-00409-9
وصف الملف: application/pdf
الاتاحة: https://hdl.handle.net/11370/5a0aba42-818d-4813-88b9-c87f78a2d3aa
https://research.rug.nl/en/publications/5a0aba42-818d-4813-88b9-c87f78a2d3aa
https://doi.org/10.1038/s41525-024-00409-9
https://pure.rug.nl/ws/files/1101884632/s41525-024-00409-9.pdf
http://www.scopus.com/inward/record.url?scp=85192064013&partnerID=8YFLogxK -
8Academic Journal
المؤلفون: de Muijnck, Cansu, Brink, Jacoline B.ten, de Haan, Hugoline G., Rodenburg, Richard J., Wolf, Nicole I., Bergen, Arthur A., Boon, Camiel J.F., van Genderen, Maria M.
المصدر: de Muijnck , C , Brink , J B T , de Haan , H G , Rodenburg , R J , Wolf , N I , Bergen , A A , Boon , C J F & van Genderen , M M 2024 , ' Mutations in NSUN3, a Mitochondrial Methyl Transferase Gene, Cause Inherited Optic Neuropathy ' , Genes , vol. 15 , no. 5 , 530 . https://doi.org/10.3390/genes15050530
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9Academic Journal
المؤلفون: Lacombe, Didier, Bloch-Zupan, Agnès, Bredrup, Cecilie, Cooper, Edward B., Houge, Sofia Douzgou, García-Miñaúr, Sixto, Kayserili, Hülya, Larizza, Lidia, Lopez Gonzalez, Vanesa, Menke, Leonie A., Milani, Donatella, Saettini, Francesco, Stevens, Cathy A., Tooke, Lloyd, Van Der Zee, Jill A., Van Genderen, Maria M., Van-Gils, Julien, Waite, Jane, Adrien, Jean Louis, Bartsch, Oliver, Bitoun, Pierre, Bouts, Antonia H.M., Cueto-González, Anna M., Dominguez-Garrido, Elena, Duijkers, Floor A., Fergelot, Patricia, Halstead, Elizabeth, Huisman, Sylvia A., Meossi, Camilla, Mullins, Jo, Nikkel, Sarah M., Oliver, Chris, Prada, Elisabetta, Rei, Alessandra, Riddle, Ilka, Rodriguez-Fonseca, Cristina, Rodríguez Pena, Rebecca, Russell, Janet, Saba, Alicia, Santos-Simarro, Fernando, Simpson, Brittany N., Smith, David F., Stevens, Markus F., Szakszon, Katalin, Taupiac, Emmanuelle, Totaro, Nadia, Valenzuena Palafoll, Irene, Van Der Kaay, Daniëlle C.M., Van Wijk, Michiel P., Vyshka, Klea, Wiley, Susan, Hennekam, Raoul C.
المساهمون: MS Oogheelkunde, Child Health
مصطلحات موضوعية: Genetic Diseases, Inborn, Genetics, Medical, Mental Disorders, Phenotype, Genetics(clinical)
وصف الملف: application/pdf
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10Academic Journal
المؤلفون: de Muijnck, Cansu, van Schooneveld, Mary J., Plomp, Astrid S., Rodenburg, Richard J., van Genderen, Maria M., Boon, Camiel J.F.
المساهمون: Oogheelkunde Onderzoek, Zorgeenheid Oogheelkunde Medisch, MS Oogheelkunde, Child Health
مصطلحات موضوعية: Leber's hereditary optic neuropathy, MT-ATP6, Optic atrophy, Ophthalmology
وصف الملف: application/pdf
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11Academic Journal
المؤلفون: Kruijt, C. C., de Wit, G. C., van Minderhout, H. M., Schalij-Delfos, N. E., van Genderen, M. M.
المساهمون: Zorgeenheid Oogheelkunde Medisch, Child Health
مصطلحات موضوعية: General
وصف الملف: application/pdf
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12Academic Journal
المؤلفون: Karuntu, Jessica S., Nguyen, Xuan Thanh An, Talib, Mays, van Schooneveld, Mary J., Wijnholds, Jan, van Genderen, Maria M., Schalij-Delfos, Nicoline E., Klaver, Caroline C.W., Meester-Smoor, Magda A., van den Born, L. Ingeborgh, Hoyng, Carel B., Thiadens, Alberta A.H.J., Bergen, Arthur A., van Nispen, Ruth M.A., Boon, Camiel J.F.
المساهمون: MS Oogheelkunde, Child Health
مصطلحات موضوعية: CRB1, inherited retinal dystrophy, National Eye Institute Visual Function Questionnaire, patient-reported outcome measure, quality of life, Ophthalmology
وصف الملف: application/pdf
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13Academic Journal
المؤلفون: Lacombe, Didier, Bloch-Zupan, Agnès, Bredrup, Cecilie, Cooper, Edward B., Houge, Sofia Douzgou, García-Miñaúr, Sixto, Kayserili, Hülya, Larizza, Lidia, Lopez Gonzalez, Vanesa, Menke, Leonie A., Milani, Donatella, Saettini, Francesco, Stevens, Cathy A., Tooke, Lloyd, Van Der Zee, Jill A., Van Genderen, Maria M., Van-Gils, Julien, Waite, Jane, Adrien, Jean Louis, Bartsch, Oliver, Bitoun, Pierre, Bouts, Antonia H.M., Cueto-González, Anna M., Dominguez-Garrido, Elena, Duijkers, Floor A., Fergelot, Patricia, Halstead, Elizabeth, Huisman, Sylvia A., Meossi, Camilla, Mullins, Jo, Nikkel, Sarah M., Oliver, Chris, Prada, Elisabetta, Rei, Alessandra, Riddle, Ilka, Rodriguez-Fonseca, Cristina, Rodríguez Pena, Rebecca, Russell, Janet, Saba, Alicia, Santos-Simarro, Fernando, Simpson, Brittany N., Smith, David F., Stevens, Markus F., Szakszon, Katalin, Taupiac, Emmanuelle, Totaro, Nadia, Valenzuena Palafoll, Irene, Van Der Kaay, Daniëlle C.M., Van Wijk, Michiel P., Vyshka, Klea, Wiley, Susan, Hennekam, Raoul C.
المصدر: Lacombe , D , Bloch-Zupan , A , Bredrup , C , Cooper , E B , Houge , S D , García-Miñaúr , S , Kayserili , H , Larizza , L , Lopez Gonzalez , V , Menke , L A , Milani , D , Saettini , F , Stevens , C A , Tooke , L , Van Der Zee , J A , Van Genderen , M M , Van-Gils , J , Waite , J , Adrien , J L , Bartsch , O , Bitoun , P , Bouts , A H ....
وصف الملف: application/pdf
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14Academic Journal
المؤلفون: Karuntu, Jessica S., Nguyen, Xuan Thanh An, Talib, Mays, van Schooneveld, Mary J., Wijnholds, Jan, van Genderen, Maria M., Schalij-Delfos, Nicoline E., Klaver, Caroline C.W., Meester-Smoor, Magda A., van den Born, L. Ingeborgh, Hoyng, Carel B., Thiadens, Alberta A.H.J., Bergen, Arthur A., van Nispen, Ruth M.A., Boon, Camiel J.F.
المصدر: Karuntu , J S , Nguyen , X T A , Talib , M , van Schooneveld , M J , Wijnholds , J , van Genderen , M M , Schalij-Delfos , N E , Klaver , C C W , Meester-Smoor , M A , van den Born , L I , Hoyng , C B , Thiadens , A A H J , Bergen , A A , van Nispen , R M A & Boon , C J F 2024 , ' Quality of life in patients with CRB1-associated retinal dystrophies : A longitudinal study ....
وصف الملف: application/pdf
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15Academic Journal
المؤلفون: Hensman, Jonathan, Hahn, Leo C., van Schooneveld, Mary J., Diederen, Roselie M.H., ten Brink, Jacoline B., Florijn, Ralph J., Bergen, Arthur A., Strubbe, Ine, Heutinck, Pam, van Genderen, Maria M., van den Born, L. Ingeborgh, Thiadens, Alberta A., de Zaeytijd, Julie, Leroy, Bart P., Hoyng, Carel B., Boon, Camiel J.F.
المصدر: Hensman , J , Hahn , L C , van Schooneveld , M J , Diederen , R M H , ten Brink , J B , Florijn , R J , Bergen , A A , Strubbe , I , Heutinck , P , van Genderen , M M , van den Born , L I , Thiadens , A A , de Zaeytijd , J , Leroy , B P , Hoyng , C B & Boon , C J F 2024 , ' Efficacy of Carbonic Anhydrase Inhibitors on Cystoid Fluid Collections and Visual Acuity in ....
وصف الملف: application/pdf
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16Academic Journal
المؤلفون: Paul, Maarten W, Aaron, Jesse, Wait, Eric, Van Genderen, Romano M, Tyagi, Arti, Kabbech, Hélène, Smal, Ihor, Chew, Teng-Leong, Kanaar, Roland, Wyman, Claire
المساهمون: Journal Cell Science, Dutch Cancer Society, Erasmus MC, Rotterdam, The Netherlands
المصدر: Nucleic Acids Research ; ISSN 0305-1048 1362-4962
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17Report
المؤلفون: van Genderen, A. M., Lobel, A., Nieuwenhuijzen, H., Henry, G. W., de Jager, C., Blown, E., Di Scala, G., van Ballegoij, E. J.
المصدر: A&A 631, A48 (2019)
مصطلحات موضوعية: Astrophysics - Solar and Stellar Astrophysics
URL الوصول: http://arxiv.org/abs/1910.02460
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18Academic Journal
المؤلفون: Khan, Kamron N, Robson, Anthony, Mahroo, Omar AR, Arno, Gavin, Inglehearn, Chris F, Armengol, Monica, Waseem, Naushin, Holder, Graham E, Carss, Keren J, Raymond, Lucy F, Webster, Andrew R, Moore, Anthony T, McKibbin, Martin, van Genderen, Maria M, Poulter, James A, Michaelides, Michel, UK Inherited Retinal Disease Consortium
المصدر: European Journal of Human Genetics. 26(5)
مصطلحات موضوعية: Biomedical and Clinical Sciences, Ophthalmology and Optometry, Clinical Research, Rare Diseases, Neurosciences, Neurodegenerative, Genetics, Eye Disease and Disorders of Vision, Brain Disorders, Aetiology, 2.1 Biological and endogenous factors, Eye, Adolescent, Adult, Alleles, Child, Child, Preschool, Electronic Health Records, Eye Proteins, Female, Genetic Association Studies, Genetic Predisposition to Disease, Genetic Testing, Humans, Infant, Infant, Newborn, Macular Degeneration, Male, Membrane Proteins, Nerve Tissue Proteins, Retinal Photoreceptor Cell Outer Segment, Young Adult, UK Inherited Retinal Disease Consortium, Clinical Sciences, Genetics & Heredity, Clinical sciences
وصف الملف: application/pdf
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19Academic Journal
المؤلفون: Nguyen, Xuan-Thanh-An, Moekotte, Lude, Plomp, Astrid S., Bergen, Arthur A., van Genderen, Maria M., Boon, Camiel J. F.
المصدر: Nguyen , X-T-A , Moekotte , L , Plomp , A S , Bergen , A A , van Genderen , M M & Boon , C J F 2023 , ' Retinitis Pigmentosa : Current Clinical Management and Emerging Therapies ' , International Journal of Molecular Sciences , vol. 24 , no. 8 , 7481 . https://doi.org/10.3390/ijms24087481
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20Academic Journal
المؤلفون: Talsma, Herman E., Kruijt, Charlotte C., de Wit, Gerard C., Zwerver, Stefan H.L., van Genderen, Maria M.
المساهمون: Zorgeenheid Oogheelkunde Medisch, MS Oogheelkunde, Child Health
مصطلحات موضوعية: foveal hypoplasia, nystagmus, visual acuity, Sensory Systems, Cellular and Molecular Neuroscience, Ophthalmology
وصف الملف: application/pdf
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