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1دورية أكاديمية
المؤلفون: Teunis J P van Dam, Julie Kennedy, Robin van der Lee, Erik de Vrieze, Kirsten A Wunderlich, Suzanne Rix, Gerard W Dougherty, Nils J Lambacher, Chunmei Li, Victor L Jensen, Michel R Leroux, Rim Hjeij, Nicola Horn, Yves Texier, Yasmin Wissinger, Jeroen van Reeuwijk, Gabrielle Wheway, Barbara Knapp, Jan F Scheel, Brunella Franco, Dorus A Mans, Erwin van Wijk, François Képès, Gisela G Slaats, Grischa Toedt, Hannie Kremer, Heymut Omran, Katarzyna Szymanska, Konstantinos Koutroumpas, Marius Ueffing, Thanh-Minh T Nguyen, Stef J F Letteboer, Machteld M Oud, Sylvia E C van Beersum, Miriam Schmidts, Philip L Beales, Qianhao Lu, Rachel H Giles, Radek Szklarczyk, Robert B Russell, Toby J Gibson, Colin A Johnson, Oliver E Blacque, Uwe Wolfrum, Karsten Boldt, Ronald Roepman, Victor Hernandez-Hernandez, Martijn A Huynen
المصدر: PLoS ONE, Vol 14, Iss 5, p e0216705 (2019)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1932-6203
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2دورية أكاديمية
المؤلفون: Ruxandra Bachmann-Gagescu, Margo Dona, Lisette Hetterschijt, Edith Tonnaer, Theo Peters, Erik de Vrieze, Dorus A Mans, Sylvia E C van Beersum, Ian G Phelps, Heleen H Arts, Jan E Keunen, Marius Ueffing, Ronald Roepman, Karsten Boldt, Dan Doherty, Cecilia B Moens, Stephan C F Neuhauss, Hannie Kremer, Erwin van Wijk
المصدر: PLoS Genetics, Vol 11, Iss 10, p e1005575 (2015)
وصف الملف: electronic resource
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3دورية أكاديمية
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)
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Sebiha Cevik, Anna A W M Sanders, Erwin Van Wijk, Karsten Boldt, Lara Clarke, Jeroen van Reeuwijk, Yuji Hori, Nicola Horn, Lisette Hetterschijt, Anita Wdowicz, Andrea Mullins, Katarzyna Kida, Oktay I Kaplan, Sylvia E C van Beersum, Ka Man Wu, Stef J F Letteboer, Dorus A Mans, Toshiaki Katada, Kenji Kontani, Marius Ueffing, Ronald Roepman, Hannie Kremer, Oliver E Blacque
المصدر: PLoS Genetics, Vol 9, Iss 12, p e1003977 (2013)
وصف الملف: electronic resource
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5دورية أكاديمية
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)
وصف الملف: electronic resource
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6دورية أكاديمية
المؤلفون: Mariam G. Aslanyan, Cenna Doornbos, Gaurav D. Diwan, Zeinab Anvarian, Tina Beyer, Katrin Junger, Sylvia E. C. van Beersum, Robert B. Russell, Marius Ueffing, Alexander Ludwig, Karsten Boldt, Lotte B. Pedersen, Ronald Roepman
المصدر: Frontiers in Cell and Developmental Biology, Vol 11 (2023)
مصطلحات موضوعية: cilia, cilia ubiquitination, ciliopathies, caveolae, ESCRT, clathrin-mediated endocytosis, Biology (General), QH301-705.5
وصف الملف: electronic resource
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7دورية أكاديمية
المؤلفون: Siebren Faber, Stef J. F. Letteboer, Katrin Junger, Rossano Butcher, Trinadh V. Satish Tammana, Sylvia E. C. van Beersum, Marius Ueffing, Rob W. J. Collin, Qin Liu, Karsten Boldt, Ronald Roepman
المصدر: Cells, Vol 12, Iss 2, p 312 (2023)
مصطلحات موضوعية: PDE6D, FAM219A, NIM1K, UBL3, protein trafficking, prenylation, Cytology, QH573-671
وصف الملف: electronic resource
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8
المؤلفون: Max D van Essen, Rossano Butcher, Marius Ueffing, Adem Yildirim, Rob W.J. Collin, Qin Liu, Lonneke Duijkers, Krzysztof Palczewski, Anita D M. Hoogendoorn, Nikoleta Argyrou, Sylvia E. C. van Beersum, Alejandro Garanto, Uwe Wolfrum, Julio C. Corral-Serrano, Karsten Boldt, Ronald Roepman, Renate A A Ruigrok, Ideke J.C. Lamers, Stef J.F. Letteboer, Jeroen van Reeuwijk, Sanae Sakami, Michael E. Cheetham
المصدر: Proceedings of the National Academy of Sciences of the United States of America
Proceedings of the National Academy of Sciences USA, 117, 18, pp. 9922-9931
Proceedings of the National Academy of Sciences USA, 117, 9922-9931مصطلحات موضوعية: cilium, macromolecular substances, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Actin-Related Protein 2-3 Complex, chemistry.chemical_compound, Mice, All institutes and research themes of the Radboud University Medical Center, retinitis pigmentosa, Retinitis pigmentosa, medicine, Genetics, Animals, Humans, Cilia, RNA, Small Interfering, Ciliary tip, Eye Proteins, Ciliary membrane, Actin, Mice, Knockout, Multidisciplinary, Cilium, outer segments, Retinal, Biological Sciences, medicine.disease, Rod Cell Outer Segment, Photoreceptor outer segment, photoreceptor, Actins, Cell biology, Wiskott-Aldrich Syndrome Protein Family, Disease Models, Animal, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], chemistry, PNAS Plus, Gene Expression Regulation, Retinal Cone Photoreceptor Cells, sense organs, actin, Cone-Rod Dystrophies, Visual phototransduction
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e83332f56f60ea20a98c62f809c4c72
https://hdl.handle.net/2066/218985 -
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المؤلفون: Sylvia E. C. van Beersum, Stephan C.F. Neuhauss, Jeroen van Reeuwijk, Fowzan S. Alkuraya, Mostafa Asadollahi, Julie C. Van De Weghe, Marius Ueffing, Manali Chitre, Dan Doherty, Arezou Karamzade, Caitlin V. Miller, Stef J.F. Letteboer, Tamara D.S. Rusterholz, Michael J. Bamshad, Megan E. Grout, Ruxandra Bachmann-Gagescu, Matthias Gesemann, Heba Morsy, Karsten Boldt, Ronald Roepman, John A. Sayer, Miguel Barroso-Gil, Jennifer C. Dempsey, Ranad Shaheen, Arianna Gomez, Brooke L. Latour, Mohammad Keramatipour, Deborah A. Nickerson
المساهمون: University of Zurich
المصدر: Journal of Clinical Investigation, 130, 8, pp. 4423-4439
J Clin Invest
Journal of Clinical Investigation, 130, 4423-4439مصطلحات موضوعية: 0301 basic medicine, 10039 Institute of Medical Genetics, Hindbrain, Joubert syndrome, Retina, 03 medical and health sciences, 0302 clinical medicine, Microtubule, Cerebellum, medicine, Animals, Humans, Abnormalities, Multiple, Cilia, Eye Abnormalities, Polyglutamylation, Zebrafish, Armadillo Domain Proteins, biology, Cilium, Acetylation, General Medicine, Kidney Diseases, Cystic, Zebrafish Proteins, medicine.disease, biology.organism_classification, 10124 Institute of Molecular Life Sciences, Cell biology, Ciliopathy, Disease Models, Animal, 030104 developmental biology, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], 030220 oncology & carcinogenesis, Armadillo repeats, 570 Life sciences, CRISPR-Cas Systems, Peptides, Research Article
وصف الملف: application/pdf; 131656.1-20200519151036_Dysfunction.pdf - application/pdf
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المؤلفون: Marius Ueffing, Arianna Gomez, Ranad Shaheen, Karsten Boldt, Matthias Gesemann, Stephan C.F. Neuhauss, Ronald Roepman, Tamara D.S. Rusterholz, Julie C. Van De Weghe, Deborah A. Nickerson, Brooke L. Latour, Stef J.F. Letteboer, Fowzan S. Alkuraya, Sylvia E. C. van Beersum, Heba Morsy, Jennifer C. Dempsey, Ruxandra Bachmann-Gagescu, Caitlin V. Miller, Michael J. Bamshad, Megan E. Grout, Jeroen van Reeuwijk, Dan Doherty
مصطلحات موضوعية: 0303 health sciences, Cilium, Hindbrain, Biology, medicine.disease, biology.organism_classification, Joubert syndrome, Cell biology, 03 medical and health sciences, Ciliopathy, 0302 clinical medicine, Organelle, medicine, CRISPR, Zebrafish, 030217 neurology & neurosurgery, Function (biology), 030304 developmental biology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3ff3bec0b33061a35d6e48edf26e7fe
https://doi.org/10.1101/817213