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)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/206fb09f592a41a7979de76d71996765

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)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC4617701?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

URL الوصول: https://doaj.org/article/08a6b296c08e4098b69576d26dadd7af

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: 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)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC3854969?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

URL الوصول: https://doaj.org/article/566785b284434b95974086b530bbc77f

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: 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

Relation: https://www.frontiersin.org/articles/10.3389/fcell.2023.1113656/full; https://doaj.org/toc/2296-634X

URL الوصول: https://doaj.org/article/763fbe7f15ec459a96e34a2a65158816

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

Relation: https://www.mdpi.com/2073-4409/12/2/312; https://doaj.org/toc/2073-4409

URL الوصول: https://doaj.org/article/12a6f3da617b4ffea1586043b075c872

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, 9922-9931

مصطلحات 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

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, 4423-4439

مصطلحات 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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa7189d0e48e47effe94af8b9a01c7cf

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