المؤلفون: Muriël Messchaert, Margo Dona, Sanne Broekman, Theo A Peters, Julio C Corral-Serrano, Ralph W N Slijkerman, Erwin van Wijk, Rob W J Collin

المصدر: PLoS ONE, Vol 13, Iss 7, p e0200789 (2018)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC6063403?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/0d19b46657b94f33aa2ca97841973e82

المؤلفون: Radulfus WN Slijkerman, Christel Vaché, Margo Dona, Gema García-García, Mireille Claustres, Lisette Hetterschijt, Theo A Peters, Bas P Hartel, Ronald JE Pennings, José M Millan, Elena Aller, Alejandro Garanto, Rob WJ Collin, Hannie Kremer, Anne-Françoise Roux, Erwin Van Wijk

المصدر: Molecular Therapy: Nucleic Acids, Vol 5, Iss C (2016)

مصطلحات موضوعية: antisense oligonucleotides, genetic therapy, splice redirection, USH2A, Usher syndrome, Therapeutics. Pharmacology, RM1-950

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2162253117301087; https://doaj.org/toc/2162-2531

URL الوصول: https://doaj.org/article/630403874b684cdf82cd8b7633db40fd

المؤلفون: Margo Dona, Ruxandra Bachmann-Gagescu, Yves Texier, Grischa Toedt, Lisette Hetterschijt, Edith L Tonnaer, Theo A Peters, Sylvia E C van Beersum, Judith G M Bergboer, Nicola Horn, Erik de Vrieze, Ralph W N Slijkerman, Jeroen van Reeuwijk, Gert Flik, Jan E Keunen, Marius Ueffing, Toby J Gibson, Ronald Roepman, Karsten Boldt, Hannie Kremer, Erwin van Wijk

المصدر: PLoS Genetics, Vol 11, Iss 10, p e1005574 (2015)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC4617706?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

URL الوصول: https://doaj.org/article/b9f497670fd94428a52335717ffcab65

المؤلفون: Alejandro Garanto, Sylvia E C van Beersum, Theo A Peters, Ronald Roepman, Frans P M Cremers, Rob W J Collin

المصدر: PLoS ONE, Vol 8, Iss 11, p e79369 (2013)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC3819269?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/8d6cf74a58e940fb9c1a9318b100e144

المؤلفون: Gerard Platenburg, Jingjing Zang, Erwin van Wijk, Margo Dona, Sanne Broekman, Jiayi Miao, Cathaline den Besten, Erik de Vrieze, Hee Lam Chan, Janne J. Turunen, Hanka Venselaar, Lars Vorthoren, Kalyan Dulla, Peter Adamson, Ralph Slijkerman, Stephan C.F. Neuhauss, Silvia Albert, Wouter Beumer, Theo A. Peters, Iris Schmidt, Hester van Diepen, Ronald J.E. Pennings, Hannie Kremer, Levi Buil, Iris Schulkens

المصدر: Molecular Therapy, 29, 8, pp. 2441-2455
Mol Ther
Molecular Therapy, 29, 2441-2455

مصطلحات موضوعية: Models, Molecular, Usher syndrome, Mutant, Induced Pluripotent Stem Cells, Biology, medicine.disease_cause, Retina, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], 03 medical and health sciences, Exon, Mice, 0302 clinical medicine, All institutes and research themes of the Radboud University Medical Center, Drug Discovery, Retinitis pigmentosa, otorhinolaryngologic diseases, Genetics, medicine, Animals, Humans, Outer nuclear layer, Molecular Biology, Zebrafish, Cells, Cultured, 030304 developmental biology, Pharmacology, 0303 health sciences, Mutation, Extracellular Matrix Proteins, Dose-Response Relationship, Drug, Vascular damage Radboud Institute for Molecular Life Sciences [Radboudumc 16], Exons, Oligonucleotides, Antisense, Zebrafish Proteins, medicine.disease, biology.organism_classification, Molecular biology, Exon skipping, Disease Models, Animal, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Commentary, Molecular Medicine, Nanomedicine Radboud Institute for Molecular Life Sciences [Radboudumc 19], Retinitis Pigmentosa

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0009073ca7e61b8b3ea940e0d6aa4cb9
https://hdl.handle.net/1887/3627509

المؤلفون: Theo A. Peters, Erik de Vrieze, Pam Graave, Sanne Broekman, Renske Schellens, Erwin van Wijk, Kerstin Nagel-Wolfrum, Rob W.J. Collin, Hannie Kremer

المصدر: International Journal of Molecular Sciences
Volume 22
Issue 17
International Journal of Molecular Sciences, 22
International Journal of Molecular Sciences, 22, 17
International Journal of Molecular Sciences, Vol 22, Iss 9154, p 9154 (2021)

مصطلحات موضوعية: QH301-705.5, Catalysis, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Article, Inorganic Chemistry, Exon, All institutes and research themes of the Radboud University Medical Center, EYS, Protein Domains, retinitis pigmentosa, Retinitis pigmentosa, medicine, CRISPR, Coding region, Animals, Biology (General), Physical and Theoretical Chemistry, Outer nuclear layer, Eye Proteins, QD1-999, Molecular Biology, Zebrafish, CRISPR/Cas9, Spectroscopy, Genetics, exon skipping therapy, biology, Organic Chemistry, photoreceptors, General Medicine, Exons, Genetic Therapy, Zebrafish Proteins, medicine.disease, biology.organism_classification, zebrafish, Exon skipping, Computer Science Applications, Chemistry, Open reading frame, Disease Models, Animal, medicine.anatomical_structure, Phenotype, CRISPR-Cas Systems, antisense oligonucleotides

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39fcd9267709f17e4d3b2fb34ef928c7
https://doi.org/10.3390/ijms22179154

المؤلفون: Jia Qi Cheng Zhang, Anita D M. Hoogendoorn, Dyah W Karjosukarso, Erwin van Wijk, Theo A. Peters, Alejandro Garanto, Lasse Jensen, Rob W.J. Collin, Zaheer Ali

المصدر: Investigative Ophthalmology & Visual Science
Investigative Ophthalmology and Visual Science, 61
Investigative Ophthalmology and Visual Science, 61, 2

مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, Familial Exudative Vitreoretinopathies, Mutant, Mutation, Missense, Biology, medicine.disease_cause, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], znf408, 03 medical and health sciences, chemistry.chemical_compound, All institutes and research themes of the Radboud University Medical Center, 0302 clinical medicine, medicine, Missense mutation, Animals, Vascular insufficiency, Zebrafish, CRISPR/Cas9, Mutation, Retina, retinal vasculature, Biochemistry and Molecular Biology, Retinal Vessels, Retinal, medicine.disease, biology.organism_classification, zebrafish, DNA-Binding Proteins, Ophthalmology, 030104 developmental biology, medicine.anatomical_structure, chemistry, FEVR, 030221 ophthalmology & optometry, Familial exudative vitreoretinopathy, Oftalmologi

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f1e2653f6ef87c6be0806bc5fa73813
https://doi.org/10.1167/iovs.61.2.39

المؤلفون: Ralph Slijkerman, Theo A. Peters, Milou Gerits, Sanne Broekman, Erik de Vrieze, Erwin van Wijk, Hannie Kremer, Lisette Hetterschijt, Alexander Goloborodko

المصدر: Zebrafish, 15, 6, pp. 597-609
Zebrafish, 15, 597-609

مصطلحات موضوعية: 0301 basic medicine, Retinal degeneration, RNA Splicing, Usher syndrome, Biology, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], 03 medical and health sciences, 0302 clinical medicine, Splice Donor Site, All institutes and research themes of the Radboud University Medical Center, otorhinolaryngologic diseases, medicine, Animals, Humans, CRISPR, Zebrafish, Genetics, Extracellular Matrix Proteins, Intron, medicine.disease, biology.organism_classification, Introns, 030104 developmental biology, Gene Expression Regulation, Larva, Mutation, RNA splicing, Mutation (genetic algorithm), Animal Science and Zoology, RNA Splice Sites, 030217 neurology & neurosurgery, Developmental Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee16f2116e53d49a1935a1955965ccbb
https://hdl.handle.net/2066/196655

المؤلفون: Erwin van Wijk, Sanne Broekman, Theo A. Peters, Ralph Slijkerman, Muriël Messchaert, Margo Dona, Rob W.J. Collin, Julio C. Corral-Serrano

المصدر: PLoS ONE, Vol 13, Iss 7, p e0200789 (2018)
PLoS ONE
PLoS One, 13
PLoS One, 13, 7

مصطلحات موضوعية: Photoreceptors, 0301 basic medicine, Life Cycles, Sensory Receptors, genetic structures, DNA Mutational Analysis, Social Sciences, lcsh:Medicine, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Larvae, Animal Cells, Laminin, Medicine and Health Sciences, Psychology, lcsh:Science, Zebrafish, Neurons, Visual Impairments, Multidisciplinary, biology, medicine.diagnostic_test, Eukaryota, Animal Models, Cell biology, medicine.anatomical_structure, Experimental Organism Systems, Osteichthyes, Rhodopsin, Larva, Vertebrates, Retinal Cone Photoreceptor Cells, Retinal Disorders, Sensory Perception, Transducin, Cellular Types, Anatomy, Retinitis Pigmentosa, Research Article, Signal Transduction, Retinal Disorder, Genotype, Ocular Anatomy, Genes, Recessive, Research and Analysis Methods, Retina, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, Model Organisms, Protein Domains, Ocular System, Retinitis pigmentosa, Electroretinography, medicine, Animals, Humans, Eye Proteins, Immunohistochemistry Techniques, Vision, Ocular, lcsh:R, Organisms, Retinitis, Biology and Life Sciences, Afferent Neurons, Cell Biology, Zebrafish Proteins, medicine.disease, biology.organism_classification, Histochemistry and Cytochemistry Techniques, Ophthalmology, Fish, 030104 developmental biology, Cellular Neuroscience, Mutation, Immunologic Techniques, biology.protein, Eyes, RNA, lcsh:Q, sense organs, CRISPR-Cas Systems, Head, Developmental Biology, Neuroscience

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a7bf87619482a4e77841af15f9118acf
http://europepmc.org/articles/PMC6063403?pdf=render

المؤلفون: Leonie M. Kamminga, Theo A. Peters, Rob W.J. Collin, Erwin van Wijk, Muriël Messchaert, Julio C. Corral-Serrano, Margo Dona

المصدر: Scientific Reports, 8
Scientific Reports, Vol 8, Iss 1, Pp 1-10 (2018)
Scientific Reports

مصطلحات موضوعية: 0301 basic medicine, animal structures, genetic structures, Mutant, Morphogenesis, lcsh:Medicine, Article, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Animals, Genetically Modified, Mice, 03 medical and health sciences, chemistry.chemical_compound, Electroretinography, Animals, lcsh:Science, Ciliary membrane, Zebrafish, Gene, Molecular Biology, Multidisciplinary, biology, lcsh:R, Retinal, Zebrafish Proteins, biology.organism_classification, Immunohistochemistry, Phenotype, Photoreceptor outer segment, Cell biology, 030104 developmental biology, chemistry, Mesothelin, lcsh:Q, sense organs, Photic Stimulation

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e0c1673ba8bea0f373f9ea0e0fff84d
https://hdl.handle.net/2066/193330