المؤلفون: Belén García-Bohórquez, Pilar Barberán-Martínez, Elena Aller, Teresa Jaijo, Pablo Mínguez, Cristina Rodilla, Lidia Fernández-Caballero, Fiona Blanco-Kelly, Carmen Ayuso, Alba Sanchis-Juan, Sanne Broekman, Erik de Vrieze, Erwin van Wijk, Gema García-García, José M. Millán

المصدر: Molecular Therapy: Nucleic Acids, Vol 35, Iss 4, Pp 102374- (2024)

مصطلحات موضوعية: MT: Oligonucleotides: Therapies and Applications, Usher syndrome, USH2A, non-coding regions, deep-intronic, splicing, Therapeutics. Pharmacology, RM1-950

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2162253124002610; https://doaj.org/toc/2162-2531

URL الوصول: https://doaj.org/article/a17a668f163e49dea766892e88041dc8

المؤلفون: Renske T.W. Schellens, Sanne Broekman, Theo Peters, Pam Graave, Lucija Malinar, Hanka Venselaar, Hannie Kremer, Erik De Vrieze, Erwin Van Wijk

المصدر: Molecular Therapy: Nucleic Acids, Vol 32, Iss , Pp 980-994 (2023)

مصطلحات موضوعية: MT: Oligonucleotides: Therapies and Applications, USH2A, antisense oligonucleotides, CRISPR-Cas9, dual exon skipping, photoreceptors, Therapeutics. Pharmacology, RM1-950

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2162253123001373; https://doaj.org/toc/2162-2531

URL الوصول: https://doaj.org/article/819a81b9ec714c17aee7bfc70895bac8

المؤلفون: Janine Reurink, Erik de Vrieze, Catherina H. Z. Li, Emma van Berkel, Sanne Broekman, Marco Aben, Theo Peters, Jaap Oostrik, Kornelia Neveling, Hanka Venselaar, Mariana Guimarães Ramos, Christian Gilissen, Galuh D. N. Astuti, Jordi Corominas Galbany, Janneke J. C. van Lith-Verhoeven, Charlotte W. Ockeloen, Lonneke Haer-Wigman, Carel B. Hoyng, Frans P. M. Cremers, Hannie Kremer, Susanne Roosing, Erwin van Wijk

المصدر: npj Genomic Medicine, Vol 7, Iss 1, Pp 1-9 (2022)

مصطلحات موضوعية: Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2056-7944

URL الوصول: https://doaj.org/article/6094fbd31fc64081a2b2723bd0ebe783

المؤلفون: Sophie T. Raterman, Johannes W. Von Den Hoff, Sietske Dijkstra, Cheyenne De Vriend, Tim Te Morsche, Sanne Broekman, Jan Zethof, Erik De Vrieze, Frank A. D. T. G. Wagener, Juriaan R. Metz

المصدر: Frontiers in Cell and Developmental Biology, Vol 11 (2023)

مصطلحات موضوعية: zebrafish, FOXE1, bamforth-lazarus syndrome, cleft palate, craniofacial malformations, skeletal development, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fcell.2023.1143844/full; https://doaj.org/toc/2296-634X

URL الوصول: https://doaj.org/article/cd69ba0d7225418db7d9b46198853552

المؤلفون: Wim H. Quint, Kirke C. D. Tadema, Erik de Vrieze, Rachel M. Lukowicz, Sanne Broekman, Beerend H. J. Winkelman, Melanie Hoevenaars, H. Martijn de Gruiter, Erwin van Wijk, Frank Schaeffel, Magda Meester-Smoor, Adam C. Miller, Rob Willemsen, Caroline C. W. Klaver, Adriana I. Iglesias

المصدر: Communications Biology, Vol 4, Iss 1, Pp 1-14 (2021)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2399-3642

URL الوصول: https://doaj.org/article/34eb9c818e744750bea9066079088f6f

المؤلفون: Merel Stemerdink, Sanne Broekman, Theo Peters, Hannie Kremer, Erik de Vrieze, Erwin van Wijk

المصدر: Cells, Vol 12, Iss 12, p 1598 (2023)

مصطلحات موضوعية: ADGRV1, Usher syndrome, CRISPR/Cas9, zebrafish, retinal dysfunction, retinitis pigmentosa, Cytology, QH573-671

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2073-4409/12/12/1598; https://doaj.org/toc/2073-4409

URL الوصول: https://doaj.org/article/97d038a73fe4437c98ddc4d39ffe7738

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: Erik de Vrieze, Suzanne E. de Bruijn, Janine Reurink, Sanne Broekman, Vince van de Riet, Marco Aben, Hannie Kremer, Erwin van Wijk

المصدر: International Journal of Molecular Sciences; Volume 22; Issue 17; Pages: 9429

مصطلحات موضوعية: zebrafish, CRISPR-Cas9, knock-in, homology-directed repair, disease models

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/ijms22179429

الاتاحة: https://doi.org/10.3390/ijms22179429

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

المصدر: International Journal of Molecular Sciences; Volume 22; Issue 17; Pages: 9154

مصطلحات موضوعية: EYS, CRISPR/Cas9, antisense oligonucleotides, exon skipping therapy, photoreceptors, retinitis pigmentosa, zebrafish

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/ijms22179154

الاتاحة: https://doi.org/10.3390/ijms22179154

المؤلفون: Ailís L. Moran, Stephen P. Carter, Joanna J. Kaylor, Zhichun Jiang, Sanne Broekman, Eugene T. Dillon, Alicia Gómez Sánchez, Sajal K. Minhas, Erwin van Wijk, Roxana A. Radu, Gabriel H. Travis, Michelle Carey, Oliver E. Blacque, Breandán N. Kennedy

المصدر: FASEB journal : official publication of the Federation of American Societies for Experimental Biology, vol 36, iss 5
The Faseb Journal, 36, 5
The Faseb Journal, 36
The FASEB Journal

مصطلحات موضوعية: Proteomics, Biochemistry & Molecular Biology, retinoids, Physiology, Medical Physiology, Blindness, Eye, Biochemistry, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Rab28, visual cycle, Retinoids, All institutes and research themes of the Radboud University Medical Center, Phagocytosis, Genetics, Animals, Humans, cone-rod dystrophy, bisretinoids, Molecular Biology, Eye Disease and Disorders of Vision, Zebrafish, cilia, Neurosciences, ciliopathy, rab GTP-Binding Proteins, Retinal Cone Photoreceptor Cells, outer segment, Biochemistry and Cell Biology, Biotechnology

وصف الملف: application/pdf; Print

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1121cfbe3238300672bbd2e4fe224d47
https://escholarship.org/uc/item/3tb646fs

المؤلفون: Sarah M. Kamel, Sanne Broekman, Federico Tessadori, Erwin van Wijk, Jeroen Bakkers

المساهمون: Hubrecht Institute for Developmental Biology and Stem Cell Research

المصدر: Developmental Dynamics, 251, 1357-1367
Developmental Dynamics, 251, 8, pp. 1357-1367
Developmental Dynamics, 251(8), 1357-1367. Wiley-Liss Inc.

مصطلحات موضوعية: Chromatids/metabolism, Chromosomal Proteins, Non-Histone, Centromere, Cell Cycle Proteins, Chromatids, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Zebrafish/genetics, Chromosomal Proteins, Non-Histone/genetics, Chromosomal Proteins, Cell Cycle Proteins/physiology, Non-Histone/genetics, Centromere/metabolism, Animals, Zebrafish, Developmental Biology

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0b9de242b530c20d17866504afacc05
https://doi.org/10.1002/dvdy.468

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: Ron A. Wevers, Levinus A. Bok, Erik de Vrieze, Thomas J. Boltje, Laura A. Tseng, Saadet Mercimek-Andrews, Tessa M.A. Peters, Keith Hyland, Marleen C. D. G. Huigen, Giel Berden, Clara D.M. van Karnebeek, Hilal H. Al-Shekaili, Floris P.J.T. Rutjes, Arno van Rooij, Sidney M. Gospe, Fred A. M. G. van Geenen, Sanne Broekman, Jasmin Mecinović, Jona Merx, Eduard A. Struys, Michèl A.A.P. Willemsen, Jos Oomens, Erwin van Wijk, Leo A.J. Kluijtmans, Laura A. Jansen, Udo Engelke, Purva Kulkarni, Jonathan Martens, Blair R. Leavitt, Rianne E. van Outersterp, Karlien L.M. Coene

المساهمون: Laboratory Medicine, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Amsterdam Gastroenterology Endocrinology Metabolism, Graduate School, Paediatrics, Amsterdam Neuroscience - Compulsivity, Impulsivity & Attention, Paediatric Metabolic Diseases

المصدر: Journal of Clinical Investigation, 131(15):e148272. The American Society for Clinical Investigation
Engelke, U F H, van Outersterp, R E, Merx, J, van Geenen, F A M G, van Rooij, A, Berden, G, Huigen, M C D G, Kluijtmans, L A J, Peters, T M A, Al-Shekaili, H H, Leavitt, B R, de Vrieze, E, Broekman, S, van Wijk, E, Tseng, L A, Kulkarni, P, Rutjes, F P J T, Mecinović, J, Struys, E A, Jansen, L A, Gospe, S M, Mercimek-Andrews, S, Hyland, K, Willemsen, M A A P, Bok, L A, van Karnebeek, C D M, Wevers, R A, Boltje, T J, Oomens, J, Martens, J & Coene, K L M 2021, ' Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsy ', Journal of Clinical Investigation, vol. 131, no. 15, e148272 . https://doi.org/10.1172/JCI148272
Journal of Clinical Investigation, 131
Engelke, U F, van Outersterp, R E, Merx, J, van Geenen, F A, van Rooij, A, Berden, G, Huigen, M C, Kluijtmans, L A, Peters, T M, Al-Shekaili, H H, Leavitt, B R, de Vrieze, E, Broekman, S, van Wijk, E, Tseng, L A, Kulkarni, P, Rutjes, F P, Mecinović, J, Struys, E A, Jansen, L A, Gospe, S M, Mercimek-Andrews, S, Hyland, K, Willemsen, M A, Bok, L A, Van Karnebeek, C D, Wevers, R A, Boltje, T J, Oomens, J, Martens, J & Coene, K L 2021, ' Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsy ', Journal of Clinical Investigation, vol. 131, no. 15, e148272 . https://doi.org/10.1172/JCI148272
Journal of Clinical Investigation, 131, 15
J Clin Invest
Journal of clinical investigation, 131(15):e148272. The American Society for Clinical Investigation

مصطلحات موضوعية: Spectrophotometry, Infrared, Cancer development and immune defence Radboud Institute for Molecular Life Sciences [Radboudumc 2], Other Research Radboud Institute for Molecular Life Sciences [Radboudumc 0], Synthetic Organic Chemistry, Bioinformatics, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Mice, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Animals, Humans, Metabolomics, Medicine, Child, Pyridoxine-dependent epilepsy, Zebrafish, 030304 developmental biology, Mice, Knockout, FELIX Molecular Structure and Dynamics, 0303 health sciences, Newborn screening, business.industry, Catabolism, Neurotoxicity, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], General Medicine, Aldehyde Dehydrogenase, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], medicine.disease, 3. Good health, Untargeted metabolomics, Pipecolic Acids, Biomarker (medicine), Female, Organismal Animal Physiology, Clinical Medicine, Ketosis, business, Biomarkers, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::471fe467fa7a198066d44a682b4105e9
https://research.vumc.nl/en/publications/4a38f8f6-27d4-485c-ad8a-7e7e0fa52902

المؤلفون: Ralph Slijkerman, Hester van Diepen, Silvia Albert, Margo Dona, Hanka Venselaar, Jingjing Zang, Stephan Neuhauss, Theo Peters, Sanne Broekman, Ronald Pennings, Hannie Kremer, Peter Adamson, Erik de Vrieze, Erwin van Wijk

مصطلحات موضوعية: Mutant, RNA, Biology, medicine.disease, Molecular biology, Exon skipping, Exon, medicine.anatomical_structure, RNA splicing, Retinitis pigmentosa, otorhinolaryngologic diseases, medicine, Outer nuclear layer, Gene

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::fe2ad109fe6ef4c29d0127d47ec29d8b
https://doi.org/10.1101/2020.10.06.320499

المؤلفون: W.H. (Wim) Quint, KCD (Kirke) Tadema, Erik de Vrieze, Rachel M. Lukowicz, Sanne Broekman, B.H.J. (Beerend) Winkelman, Melanie Hoevenaars, H.M. (Martijn) de Gruiter, Erwin van Wijk, Frank Schaeffel, M.A. (Magda) Meester - Smoor, Adam C. Miller, R. (Rob) Willemsen, C.C.W. (Caroline) Klaver, Adriana I. Iglesias

مصطلحات الفهرس: info:eu-repo/semantics/article

URL: http://repub.eur.nl/pub/136360

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, Andrew R. Webster, Dhani Tracey-White, Andreas Mitsios, Nattawan Utoomprurkporn, Matthew J. Hayes, Mariya Moosajee, Erik de Vrieze, Adam M. Dubis, Doris Bamiou, Sanne Broekman, Sarah Baxendale, Maria Toms, Maria Bitner-Glindzicz

المصدر: Human Molecular Genetics, 29, 1882-1899
Human Molecular Genetics, 29, 11, pp. 1882-1899
Human Molecular Genetics

مصطلحات موضوعية: Male, AcademicSubjects/SCI01140, 0301 basic medicine, Opsin, Visual acuity, Usher syndrome, Visual Acuity, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], chemistry.chemical_compound, 0302 clinical medicine, Retinal Examination, Zebrafish, Genetics (clinical), Extracellular Matrix Proteins, General Medicine, Middle Aged, medicine.anatomical_structure, Retinal Cone Photoreceptor Cells, Female, General Article, medicine.symptom, Usher Syndromes, Retinitis Pigmentosa, Adult, Rhodopsin, medicine.medical_specialty, Adolescent, Genotype, Hearing Loss, Sensorineural, Biology, Retina, Young Adult, 03 medical and health sciences, Ophthalmology, Retinitis pigmentosa, Autophagy, Electroretinography, Genetics, medicine, otorhinolaryngologic diseases, Animals, Humans, Molecular Biology, Genetic Association Studies, Aged, Opsins, Rod Opsins, Retinal, medicine.disease, biology.organism_classification, Disease Models, Animal, 030104 developmental biology, chemistry, Mutation, sense organs, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24c1d6e588f8d051019376418df2ed39
http://hdl.handle.net/2066/225159

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: Sanne Broekman, Irina Lagovsky, Lina Basel-Vanagaite, Erwin van Wijk, Shay Tzur, Eyal Banin, Erik de Vrieze, Pola Smirin-Yosef, Lonneke Haer-Wigman, Dror Sharon, Samer Khateb, Monika Weisz Hubshman, Frans P.M. Cremers, Alaa Abu-Diab

المصدر: Human Molecular Genetics, 27, 4, pp. 614-624
Human Molecular Genetics, 27, 614-624

مصطلحات موضوعية: 0301 basic medicine, Retinal degeneration, Adult, Photoreceptor Connecting Cilium, Nonsense mutation, Biology, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], 03 medical and health sciences, chemistry.chemical_compound, Young Adult, All institutes and research themes of the Radboud University Medical Center, Retinitis pigmentosa, Genetics, medicine, Humans, Exome, Molecular Biology, Genetics (clinical), Exome sequencing, Cilium, Retinal, General Medicine, medicine.disease, 030104 developmental biology, chemistry, Mutation, Female, Carrier Proteins, Retinal Dystrophies, Retinitis Pigmentosa

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b71c10e70ecb0c1bd167b011d0f775d7
https://pubmed.ncbi.nlm.nih.gov/29272404