المؤلفون: Nguyen, X.T.A., Talib, M., Schooneveld, M.J. van, Wijnholds, J., Genderen, M.M. van, Schalij-delfos, N.I.E., Klaver, C.C.W., Talsma, H.E., Fiocco, M., Florijn, R.J., Brink, J.B. ten, Cremers, F.P.M., Meester-smoor, M.A., Born, L.I. van den, Hoyng, C.B., Thiadens, A.A.H.J., Bergen, A.A., Boon, C.J.F.

المصدر: American Journal of Ophthalmology, 234, 37-48. ELSEVIER SCIENCE INC

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::62bba69512e01cf8c8612be04d77415c
https://doi.org/10.1016/j.ajo.2021.07.021

المؤلفون: Valkenburg, D., Cauwenbergh, Caroline Van, Lorenz, Birgit, Genderen, M.M. van, Bertelsen, Mette, Pott, J.W., Klaver, C.C.W., Hoyng, C.B., Born, L.I. van den, Collin, R.W.J.

المصدر: Investigative Ophthalmology and Visual Science, 59, 11, pp. 4384-4391
Investigative Ophthalmology and Visual Science, 59, 4384-4391

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

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::74c4d81e1cfaa632320dcd7ad2f04aff
https://hdl.handle.net/2066/195435

المؤلفون: Huet, R.A.C. van, Pierrache, L.H., Meester-Smoor, M.A., Klaver, C.C., Born, L.I. van den, Hoyng, C.B., Wijs, I.J. de, Collin, R.W.J., Hoefsloot, L.H., Klevering, B.J.

المصدر: Molecular Vision, 21, 461-76
Molecular Vision, 21, pp. 461-76

مصطلحات موضوعية: Sensory disorders Radboud Institute for Health Sciences [Radboudumc 12], Sensory disorders Radboud Institute for Molecular Life Sciences [Radboudumc 12], eye diseases

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::5c2dda22650ed01e1e21a8906a2d42a5
https://hdl.handle.net/2066/154175

المؤلفون: Talib, M., Schooneveld, M.J. van, Wijnholds, J., Schalij-Delfos, N.S.C., Florijn, R.J., Born, L.I. van den, Cremers, F.P.M., Thiadens, A.A., Hoyng, C.B., Klaver, C.C.W., Bergen, A.A., Boon, C.J.F.

المصدر: Acta Ophthalmologica, 95, 30-30

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::6a8126086f149d1368071ce7d950183d
https://hdl.handle.net/1887/116523

المؤلفون: Roosing, S., Rohrschneider, K., Beryozkin, A., Sharon, D., Weisschuh, N., Staller, J., Kohl, S., Zelinger, L., Peters, T.A., Neveling, K., Strom, T.M., Disease, C. European Retina, Born, L.I. van den, Hoyng, C.B., Klaver, C.C., Roepman, R., Wissinger, B., Banin, E., Cremers, F.P.M., Hollander, A.I. den

المساهمون: Ophthalmology

المصدر: American Journal of Human Genetics, 93, 110-7
The American Journal of Human Genetics; Vol 93
American Journal of Human Genetics, 93, 1, pp. 110-7
American Journal of Human Genetics, 93(1), 110-117. Cell Press

مصطلحات موضوعية: Genetics and epigenetic pathways of disease [NCMLS 6], genetic structures, Visual Acuity, GTPase, Retinal Pigment Epithelium, Retinal Rod Photoreceptor Cells, Evaluation of complex medical interventions Genomic disorders and inherited multi-system disorders [NCEBP 2], Genetics(clinical), Child, Genetics (clinical), Genetics, 0303 health sciences, 030305 genetics & heredity, Homozygote, Chromosome Mapping, Disease gene identification, Pedigree, Isoenzymes, Protein Transport, medicine.anatomical_structure, Codon, Nonsense, Retinitis Pigmentosa, Adult, Adolescent, Nonsense mutation, Protein Prenylation, Genes, Recessive, Biology, Retina, Genomic disorders and inherited multi-system disorders [IGMD 3], 03 medical and health sciences, Report, Retinitis pigmentosa, Ciliary rootlet, medicine, Animals, Humans, Genetic Predisposition to Disease, Cilia, Photoreceptor Connecting Cilium, Genetic Association Studies, 030304 developmental biology, Retinal pigment epithelium, Genetics and epigenetic pathways of disease Plasticity and memory [NCMLS 6], medicine.disease, Molecular biology, eye diseases, Rats, Alternative Splicing, Gene Expression Regulation, rab GTP-Binding Proteins, Protein prenylation, Rab, sense organs, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6]

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dcbdd8c3d9e814ec7ff86694f085cc8c
https://hdl.handle.net/1765/54752

المؤلفون: Yzer, S., Hollander, A.I. den, Lopez, I., Pott, J.W., de Faber, J.T., Cremers, F.P., Koenekoop, R.K., Born, L.I. van den

المصدر: Molecular Vision, 18, 412-25
Molecular Vision, 18, pp. 412-25

مصطلحات موضوعية: Genetics and epigenetic pathways of disease [NCMLS 6], sense organs, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6]

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::c9ee1fd438650aac1dc0b7c2de623fa9
https://hdl.handle.net/2066/108895

المؤلفون: Boon, C.J.F., Born, L.I. van den, Keunen, J.E.E., Bergen, A.A.B., Riemslag, F.C., Florijn, R.J., Schooneveld, M.J. van

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od_____10693::bc73ad13c7704f22609a6ba3b89accd7
https://hdl.handle.net/1887/107629

المؤلفون: Boon, C.J.F., Born, L.I. van den, Keunen, J.E.E., Bergen, A.A., Riemslag, F.C., Florijn, R.J., Schooneveld, M.J. van

المصدر: Retina-The Journal of Retinal and Vitreous Diseases, 35, e57-8

URL الوصول: https://explore.openaire.eu/search/publication?articleId=narcis______::ecc55bb05eccc5c8e1d2a18b8bba7c2e
http://hdl.handle.net/2066/154884

المؤلفون: Huet, R.A.C. van, Oomen, C.J., Plomp, A.S., Genderen, M.M. van, Klevering, B.J., Schlingemann, R.O., Klaver, C.C., Born, L.I. van den, Cremers, F.P.M., Group, R.D.S.

المساهمون: Human Genetics, Paediatric Genetics, Amsterdam Cardiovascular Sciences, Amsterdam Neuroscience, Ophthalmology, Amsterdam institute for Infection and Immunity

المصدر: Investigative ophthalmology & visual science, 55(11), 7355-7360. Association for Research in Vision and Ophthalmology Inc.
Investigative Ophthalmology and Visual Science, 55, 7355-60
Investigative Ophthalmology & Visual Science, 55(11), 7355-7360. Association for Research in Vision and Ophthalmology Inc.
Investigative Ophthalmology and Visual Science, 55, 11, pp. 7355-60

مصطلحات موضوعية: medicine.medical_specialty, Future studies, Databases, Factual, DNA Mutational Analysis, Chorioretinal disorders, Other Research Radboud Institute for Molecular Life Sciences [Radboudumc 0], Sensory disorders Radboud Institute for Health Sciences [Radboudumc 12], Data entry, computer.software_genre, Retina, Retinal Diseases, Molecular genetics, parasitic diseases, Clinical genetic, Humans, Medicine, European standard, Genetic Predisposition to Disease, Sensory disorders Radboud Institute for Molecular Life Sciences [Radboudumc 12], Heterogeneous group, Database, business.industry, DNA, Data sharing, Mutation, business, computer

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a5f624ac2b2d10ad77481c0bd43d7b7
https://pure.amc.nl/en/publications/the-rd5000-database-facilitating-clinical-genetic-and-therapeutic-studies-on-inherited-retinal-diseases(c219e9a4-bdc9-418f-bf43-0c743c19e9d5).html

المؤلفون: Ijzer, S., Born, L.I. van den, Cremers, F.P.M., Hollander, A.I. den

المصدر: Nederlands Tijdschrift voor Geneeskunde, 149, 2334-7
Nederlands Tijdschrift voor Geneeskunde, 149, 42, pp. 2334-7

مصطلحات موضوعية: Genomic disorders and inherited multi-system disorders [IGMD 3], Genetics and epigenetic pathways of disease [NCMLS 6], genetic structures, Perception and Action [DCN 1], Neurosensory disorders [UMCN 3.3], sense organs, eye diseases

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::a3ec6ee6005a0d63dd1659082332a3ba
http://hdl.handle.net/2066/47955