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1Academic 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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2Academic Journal
المؤلفون: Nguyen, Xuan Thanh An, Talib, Mays, van Schooneveld, Mary J., Wijnholds, Jan, van Genderen, Maria M., Schalij-Delfos, Nicoline E., Klaver, Caroline C.W., Talsma, Herman E., Fiocco, Marta, Florijn, Ralph J., ten Brink, Jacoline B., Cremers, Frans P.M., Meester-Smoor, Magda A., van den Born, L. Ingeborgh, Hoyng, Carel B., Thiadens, Alberta A.H.J., Bergen, Arthur A., Boon, Camiel J.F.
المساهمون: MS Oogheelkunde, Child Health
مصطلحات موضوعية: Electroretinography, Eye Proteins/genetics, Humans, Membrane Proteins/genetics, Nerve Tissue Proteins/genetics, Retina, Retinal Dystrophies/diagnosis, Retinitis Pigmentosa/diagnosis, Tomography, Optical Coherence/methods, Visual Field Tests, Visual Fields, Journal Article, Research Support, Non-U.S. Gov't
وصف الملف: application/pdf
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3Academic Journal
المؤلفون: Nguyen, Xuan-Thanh-An, Talib, Mays, van Schooneveld, Mary J, Wijnholds, Jan, van Genderen, Maria M, Schalij-Delfos, Nicoline E, Klaver, Caroline C W, Talsma, Herman E, Fiocco, Marta, Florijn, Ralph J, Ten Brink, Jacoline B, Cremers, Frans P M, Meester-Smoor, Magda A, Ingeborgh van den Born, L, Hoyng, Carel B, Thiadens, Alberta A H J, Bergen, Arthur A, Boon, Camiel J F
المصدر: Nguyen , X-T-A , Talib , M , van Schooneveld , M J , Wijnholds , J , van Genderen , M M , Schalij-Delfos , N E , Klaver , C C W , Talsma , H E , Fiocco , M , Florijn , R J , Ten Brink , J B , Cremers , F P M , Meester-Smoor , M A , Ingeborgh van den Born , L , Hoyng , C B , Thiadens , A A H J , Bergen , A A & Boon , C J F 2022 , ' CRB1-associated ....
وصف الملف: application/pdf
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4Academic Journal
المؤلفون: Veldman, Bram C.F., Kuper, Willemijn F.E., Lilien, Marc, Schuurs-Hoeijmakers, Janneke H.M., Marcelis, Carlo, Phan, Milan, Hettinga, Ymkje, Talsma, Herman E., van Hasselt, Peter M., Haijes, Hanneke A.
المساهمون: Metabole ziekten onderzoek 1, Nefrologie, Child Health, Metabole ziekten patientenzorg, Infection & Immunity, Genetica Sectie Metabole Diagnostiek
مصطلحات موضوعية: CEP83, ciliopathy, retinal dystrophy, retinitis pigmentosa, Genetic Predisposition to Disease, Kidney/diagnostic imaging, Humans, Child, Preschool, Male, Retinitis Pigmentosa/diagnostic imaging, Microtubule-Associated Proteins/deficiency, Ciliopathies/diagnostic imaging, Female, Retina/diagnostic imaging, Cilia, Kidney Diseases/diagnostic imaging, Case Reports, Research Support, Non-U.S. Gov't
وصف الملف: application/pdf
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5Academic Journal
المؤلفون: Kuper, Willemijn F E, Talsma, Herman E, van Schooneveld, Mary J, Pott, Jan Willem R, Huijgen, Barbara C H, de Wit, Gerard C, van Hasselt, Peter M, van Genderen, Maria M
المساهمون: Metabole ziekten onderzoek 1, Metabole ziekten patientenzorg, Child Health, Infection & Immunity
مصطلحات موضوعية: Batten disease, childhood retinal dystrophy, CLN3 disease, deep phenotyping, early recognition, early-onset STGD1, Ophthalmology, Journal Article
وصف الملف: application/pdf
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6Academic Journal
المؤلفون: Talib, Mays, van Schooneveld, Mary J., Wijnholds, Jan, van Genderen, Maria M., Schalij-Delfos, Nicoline E., Talsma, Herman E., Florijn, Ralph J., ten Brink, Jacoline B., Cremers, Frans P.M., Thiadens, Alberta A.H.J., van den Born, L. Ingeborgh, Hoyng, Carel B., Meester-Smoor, Magda A., Bergen, Arthur A., Boon, Camiel J.F.
المصدر: Talib , M , van Schooneveld , M J , Wijnholds , J , van Genderen , M M , Schalij-Delfos , N E , Talsma , H E , Florijn , R J , ten Brink , J B , Cremers , F P M , Thiadens , A A H J , van den Born , L I , Hoyng , C B , Meester-Smoor , M A , Bergen , A A & Boon , C J F 2021 , ' Defining inclusion criteria and endpoints for clinical trials : a prospective cross-sectional study in CRB1-associated ....
وصف الملف: application/pdf
الاتاحة: https://pure.eur.nl/en/publications/8070c9db-4c7f-4fce-a697-e6e075e7f556
https://doi.org/10.1111/aos.14597
https://pure.eur.nl/ws/files/53151476/Acta_Ophthalmologica_2021_Talib_Defining_inclusion_criteria_and_endpoints_for_clinical_trials_a_prospective.pdf
http://www.scopus.com/inward/record.url?scp=85100167569&partnerID=8YFLogxK -
7Academic Journal
المؤلفون: Kuper, Willemijn F. E., Talsma, Herman E., van Schooneveld, Mary J., Pott, Jan Willem R., Huijgen, Barbara C. H., de Wit, Gerard C., van Hasselt, Peter M., van Genderen, Maria M.
المصدر: Kuper , W F E , Talsma , H E , van Schooneveld , M J , Pott , J W R , Huijgen , B C H , de Wit , G C , van Hasselt , P M & van Genderen , M M 2021 , ' Recognizing differentiating clinical signs of CLN3 disease (Batten disease) at presentation ' , Acta ophthalmologica , vol. 99 , no. 4 , pp. 397-404 . https://doi.org/10.1111/aos.14630
مصطلحات موضوعية: Batten disease, childhood retinal dystrophy, CLN3 disease, deep phenotyping, early recognition, early-onset STGD1, CEROID-LIPOFUSCINOSIS CLN3, OPTIC-NERVE DEGENERATION, VISION LOSS, JUVENILE, DIAGNOSIS, PHENOTYPE, DECLINE, MODEL
وصف الملف: application/pdf
الاتاحة: https://hdl.handle.net/11370/2bf67dab-4cef-4afe-b4b0-e6fb18008602
https://research.rug.nl/en/publications/2bf67dab-4cef-4afe-b4b0-e6fb18008602
https://doi.org/10.1111/aos.14630
https://pure.rug.nl/ws/files/202794158/Acta_Ophthalmologica_2020_Kuper_Recognizing_differentiating_clinical_signs_of_CLN3_disease_Batten_disease_at.pdf -
8Academic Journal
المؤلفون: Veldman, Bram C. F., Kuper, Willemijn F. E., Lilien, Marc, Schuurs‐Hoeijmakers, Janneke H. M., Marcelis, Carlo, Phan, Milan, Hettinga, Ymkje, Talsma, Herman E., van Hasselt, Peter M., Haijes, Hanneke A.
المساهمون: Radboud Universitair Medisch Centrum
المصدر: American Journal of Medical Genetics Part A ; volume 185, issue 7, page 2204-2210 ; ISSN 1552-4825 1552-4833
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9Electronic Resource
المؤلفون: Zorgeenheid Oogheelkunde Medisch, MS Oogheelkunde, Child Health, Talsma, Herman E., Kruijt, Charlotte C., de Wit, Gerard C., Zwerver, Stefan H.L., van Genderen, Maria M.
URL:
https://doi.org/10.1167/iovs.64.15.30 http://hdl.handle.net/1874/451075 http://www.scopus.com/inward/record.url?scp=85181177890&partnerID=8YFLogxK
0146-0404
Investigative ophthalmology & visual science
64
15
30 -
10Academic Journal
المؤلفون: Kruijt, Charlotte C., de Wit, Gerard C., Talsma, Herman E., Schalij-Delfos, Nicoline E., van Genderen, Maria M.
المساهمون: MS Oogheelkunde
مصطلحات موضوعية: Albinism, Ocular/diagnosis, Area Under Curve, Child, Preschool, Cohort Studies, Evoked Potentials, Visual/physiology, Female, Humans, Male, Optic Chiasm/pathology, Optic Nerve Diseases/diagnosis, Photic Stimulation, Reproducibility of Results, Retrospective Studies, Sensitivity and Specificity, Vision Disorders/diagnosis, Visual Acuity, Visual Pathways/pathology, Journal Article, Research Support, Non-U.S. Gov't
وصف الملف: image/pdf
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11Electronic Resource
المؤلفون: Nguyen, Xuan-Thanh-An, Talib, Mays, van Schooneveld, Mary J, Wijnholds, Jan, van Genderen, Maria M, Schalij-Delfos, Nicoline E, Klaver, Caroline C W, Talsma, Herman E, Fiocco, Marta, Florijn, Ralph J, Ten Brink, Jacoline B, Cremers, Frans P M, Meester-Smoor, Magda A, Ingeborgh van den Born, L, Hoyng, Carel B, Thiadens, Alberta A H J, Bergen, Arthur A, Boon, Camiel J F
المصدر: American Journal of Ophthalmology vol.234 (2022) p.37-48 [ISSN 0002-9394]
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12Electronic Resource
المؤلفون: Nguyen, Xuan Thanh An, Talib, Mays, van Schooneveld, Mary J., Wijnholds, Jan, van Genderen, Maria M., Schalij-Delfos, Nicoline E., Klaver, Caroline C.W., Talsma, Herman E., Fiocco, Marta, Florijn, Ralph J., ten Brink, Jacoline B., Cremers, Frans P.M., Meester-Smoor, Magda A., van den Born, L. Ingeborgh, Hoyng, Carel B., Thiadens, Alberta A.H.J., Bergen, Arthur A., Boon, Camiel J.F.
المصدر: Nguyen , X T A , Talib , M , van Schooneveld , M J , Wijnholds , J , van Genderen , M M , Schalij-Delfos , N E , Klaver , C C W , Talsma , H E , Fiocco , M , Florijn , R J , ten Brink , J B , Cremers , F P M , Meester-Smoor , M A , van den Born , L I , Hoyng , C B , Thiadens , A A H J , Bergen , A A & Boon , C J F 2022 , ' CRB1-Associated Retinal Dystrophies : A Prospective Natural History Study in Anticipation of Future Clinical Trials ' , American Journal of Ophthalmology , vol. 234 , pp. 37-48 .
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13Electronic Resource
المؤلفون: MS Oogheelkunde, Child Health, Nguyen, Xuan Thanh An, Talib, Mays, van Schooneveld, Mary J., Wijnholds, Jan, van Genderen, Maria M., Schalij-Delfos, Nicoline E., Klaver, Caroline C.W., Talsma, Herman E., Fiocco, Marta, Florijn, Ralph J., ten Brink, Jacoline B., Cremers, Frans P.M., Meester-Smoor, Magda A., van den Born, L. Ingeborgh, Hoyng, Carel B., Thiadens, Alberta A.H.J., Bergen, Arthur A., Boon, Camiel J.F.
URL:
https://doi.org/10.1016/j.ajo.2021.07.021 http://hdl.handle.net/1874/445052 https://dspace.library.uu.nl/handle/1874/445052 http://www.scopus.com/inward/record.url?scp=85118889813&partnerID=8YFLogxK
0002-9394
American Journal of Ophthalmology
234
37
48 -
14Electronic Resource
المؤلفون: Talib, Mays, van Schooneveld, Mary J, Wijnholds, Jan, van Genderen, Maria M, Schalij-Delfos, Nicoline E, Talsma, Herman E, Florijn, Ralph J, Ten Brink, Jacoline B, Cremers, Frans P M, Thiadens, Alberta A H J, van den Born, L Ingeborgh, Hoyng, Carel B, Meester-Smoor, Magda A, Bergen, Arthur A, Boon, Camiel J F
المصدر: Acta Ophthalmologica vol.99 (2021) p.e402-e414 [ISSN 1755-375X]
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15Electronic Resource
المؤلفون: Metabole ziekten onderzoek 1, Nefrologie, Child Health, Metabole ziekten patientenzorg, Infection & Immunity, Genetica Sectie Metabole Diagnostiek, Veldman, Bram C.F., Kuper, Willemijn F.E., Lilien, Marc, Schuurs-Hoeijmakers, Janneke H.M., Marcelis, Carlo, Phan, Milan, Hettinga, Ymkje, Talsma, Herman E., van Hasselt, Peter M., Haijes, Hanneke A.
URL:
https://doi.org/10.1002/ajmg.a.62225 http://hdl.handle.net/1874/443000 https://dspace.library.uu.nl/handle/1874/443000 http://www.scopus.com/inward/record.url?scp=85104935213&partnerID=8YFLogxK
1552-4825
American Journal of Medical Genetics, Part A
185
7
2204
2210 -
16Electronic Resource
المؤلفون: Metabole ziekten onderzoek 1, Metabole ziekten patientenzorg, Child Health, Infection & Immunity, Kuper, Willemijn F E, Talsma, Herman E, van Schooneveld, Mary J, Pott, Jan Willem R, Huijgen, Barbara C H, de Wit, Gerard C, van Hasselt, Peter M, van Genderen, Maria M
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17Electronic Resource
المؤلفون: MS Oogheelkunde, Kruijt, Charlotte C., de Wit, Gerard C., Talsma, Herman E., Schalij-Delfos, Nicoline E., van Genderen, Maria M.
URL:
https://doi.org/10.1167/iovs.19-27364 http://hdl.handle.net/1874/391591 https://dspace.library.uu.nl/handle/1874/391591 http://www.scopus.com/inward/record.url?scp=85072706195&partnerID=8YFLogxK
0146-0404
Investigative ophthalmology & visual science
60
12
3963
3969 -
18Academic Journal
المؤلفون: Littink, Karin W., Stappers, Patricia T. Y., Riemslag, Frans C. C., Talsma, Herman E., van Genderen, Maria M., Cremers, Frans P. M., Collin, Rob W. J., van den Born, L. Ingeborgh
المصدر: Genes; Feb2018, Vol. 9 Issue 2, p68, 10p
مصطلحات موضوعية: RETINAL diseases, GENETIC mutation, HOMOZYGOSITY, NUCLEOTIDE sequencing, ELECTRORETINOGRAPHY
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19Academic Journal
المؤلفون: Roosing, Susanne, Cremers, Frans P. M., Riemslag, Frans C. C., Zonneveld-Vrieling, Marijke N., Talsma, Herman E., Klessens-Godfroy, Francoise J. M., den Hollander, Anneke I., van den Born, L. Ingeborgh
المصدر: Genes; Aug2017, Vol. 8 Issue 8, p208, 14p
مصطلحات موضوعية: RETINAL degeneration, GENETIC mutation, GENES, MESSENGER RNA, PHENOTYPES
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20Academic Journal
المؤلفون: Littink, Karin W., Stappers, Patricia T.Y., Riemslag, Frans C.C., Talsma, Herman E., van Genderen, Maria M., Cremers, Frans P.M., Collin, Rob W.J., van den Born, L. Ingeborgh
المصدر: Genes; Mar2018, Vol. 9 Issue 3, p145, 2p
مصطلحات موضوعية: GENETIC mutation, TRANSCRIPTION factors
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