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1دورية أكاديمية
المؤلفون: Karsten Boldt, Jeroen van Reeuwijk, Qianhao Lu, Konstantinos Koutroumpas, Thanh-Minh T. Nguyen, Yves Texier, Sylvia E. C. van Beersum, Nicola Horn, Jason R. Willer, Dorus A. Mans, Gerard Dougherty, Ideke J. C. Lamers, Karlien L. M. Coene, Heleen H. Arts, Matthew J. Betts, Tina Beyer, Emine Bolat, Christian Johannes Gloeckner, Khatera Haidari, Lisette Hetterschijt, Daniela Iaconis, Dagan Jenkins, Franziska Klose, Barbara Knapp, Brooke Latour, Stef J. F. Letteboer, Carlo L. Marcelis, Dragana Mitic, Manuela Morleo, Machteld M. Oud, Moniek Riemersma, Susan Rix, Paulien A. Terhal, Grischa Toedt, Teunis J. P. van Dam, Erik de Vrieze, Yasmin Wissinger, Ka Man Wu, Gordana Apic, Philip L. Beales, Oliver E. Blacque, Toby J. Gibson, Martijn A. Huynen, Nicholas Katsanis, Hannie Kremer, Heymut Omran, Erwin van Wijk, Uwe Wolfrum, François Kepes, Erica E. Davis, Brunella Franco, Rachel H. Giles, Marius Ueffing, Robert B. Russell, Ronald Roepman, UK10K Rare Diseases Group
المصدر: Nature Communications, Vol 7, Iss 1, Pp 1-13 (2016)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
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2دورية أكاديمية
المؤلفون: Miriam Schmidts, Yuqing Hou, Claudio R. Cortés, Dorus A. Mans, Celine Huber, Karsten Boldt, Mitali Patel, Jeroen van Reeuwijk, Jean-Marc Plaza, Sylvia E. C. van Beersum, Zhi Min Yap, Stef J. F. Letteboer, S. Paige Taylor, Warren Herridge, Colin A. Johnson, Peter J. Scambler, Marius Ueffing, Hulya Kayserili, Deborah Krakow, Stephen M. King, UK10K, Philip L. Beales, Lihadh Al-Gazali, Carol Wicking, Valerie Cormier-Daire, Ronald Roepman, Hannah M. Mitchison, George B. Witman
المصدر: Nature Communications, Vol 7, Iss 1, Pp 1-1 (2016)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
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3دورية 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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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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المؤلفون: Gerard W. Dougherty, Victor L. Jensen, Jan Frederik Scheel, Katarzyna Szymanska, Uwe Wolfrum, Radek Szklarczyk, Miriam Schmidts, Julie Kennedy, Erwin van Wijk, Brunella Franco, Toby J. Gibson, Machteld M. Oud, Chunmei Li, Nils J. Lambacher, Erik de Vrieze, Grischa Toedt, Teunis J. P. van Dam, Karsten Boldt, Heymut Omran, Yves Texier, Rachel H. Giles, Ronald Roepman, Kirsten A. Wunderlich, Sylvia E. C. van Beersum, Oliver E. Blacque, Thanh-Minh T. Nguyen, Konstantinos Koutroumpas, Hannie Kremer, Nicola Horn, Martijn A. Huynen, Michel R. Leroux, Gabrielle Wheway, Rim Hjeij, Philip L. Beales, Gisela G. Slaats, Robert B. Russell, Robin van der Lee, François Képès, Yasmin Wissinger, Barbara Knapp, Dorus A. Mans, Suzanne Rix, Marius Ueffing, Colin A. Johnson, Stef J.F. Letteboer, Victor Hernandez-Hernandez, Qianhao Lu, Jeroen van Reeuwijk
المساهمون: Sub Bioinformatics, Theoretical Biology and Bioinformatics, MUMC+: DA KG Lab Centraal Lab (9), Klinische Genetica, RS: GROW - R4 - Reproductive and Perinatal Medicine, van Dam, Teunis J P, Kennedy, Julie, van der Lee, Robin, de Vrieze, Erik, Wunderlich, Kirsten A, Rix, Suzanne, Dougherty, Gerard W, Lambacher, Nils J, Li, Chunmei, Jensen, Victor L, Leroux, Michel R, Hjeij, Rim, Horn, Nicola, Texier, Yve, Wissinger, Yasmin, van Reeuwijk, Jeroen, Wheway, Gabrielle, Knapp, Barbara, Scheel, Jan F, Franco, Brunella, Mans, Dorus A, van Wijk, Erwin, Képès, Françoi, Slaats, Gisela G, Toedt, Grischa, Kremer, Hannie, Omran, Heymut, Szymanska, Katarzyna, Koutroumpas, Konstantino, Ueffing, Mariu, Nguyen, Thanh-Minh T, Letteboer, Stef J F, Oud, Machteld M, van Beersum, Sylvia E C, Schmidts, Miriam, Beales, Philip L, Lu, Qianhao, Giles, Rachel H, Szklarczyk, Radek, Russell, Robert B, Gibson, Toby J, Johnson, Colin A, Blacque, Oliver E, Wolfrum, Uwe, Boldt, Karsten, Roepman, Ronald, Hernandez-Hernandez, Victor, Huynen, Martijn A
المصدر: PLoS ONE
PLoS One, 14
PLoS One. Public Library of Science
PloS one
PLOS ONE
PLOS ONE, 14(5):0216705. Public Library of Science
PLoS ONE, Vol 14, Iss 5, p e0216705 (2019)
PLoS One, 14, 5مصطلحات موضوعية: Proteomics, Sensory Receptors, Nematoda, Social Sciences, Ciliopathies, Biochemistry, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Transcriptome, 0302 clinical medicine, Animal Cells, Psychology, RETINAL PHOTORECEPTOR CELLS, Exome, Neurons, 0303 health sciences, 030302 biochemistry & molecular biology, Eukaryota, Genomics, PRIMARY CILIUM, thecilium, 3. Good health, Nucleic acids, Genetic interference, Osteichthyes, Medicine, Epigenetics, Cellular Structures and Organelles, Cellular Types, proteomic databases, Sensory Receptor Cells, Science, education, Ciliary genes, LEBER CONGENITAL AMAUROSIS, 03 medical and health sciences, Genetics, Cilia, Caenorhabditis elegans, IDENTIFICATION, MUTATIONS, Embryos, cilia, Organisms, Biology and Life Sciences, Bayes Theorem, Molecular Sequence Annotation, medicine.disease, Invertebrates, Fish, ciliary proteome, Animal Studies, Caenorhabditis, Gene expression, embryos, 030217 neurology & neurosurgery, Developmental Biology, Neuroscience, Photoreceptors, Candidate gene, Embryology, Oligonucleotides, Morpholino, Database and Informatics Methods, RNA interference, Bayesian classifier, TRANSITION ZONE, Zebrafish, Antisense Oligonucleotides, Multidisciplinary, Spectrometric Identification of Proteins, Proteomic Databases, Nucleotides, Cilium, Stable Isotope Labeling by Amino Acids in Cell Culture, photoreceptors, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Animal Models, Phenotype, INTRAFLAGELLAR TRANSPORT, DIFFERENTIATION, Experimental Organism Systems, Caenorhabditis Elegans, Vertebrates, Sensory Perception, Research Article, Signal Transduction, EXPRESSION, Stable isotope labeling by amino acids in cell culture, Computational biology, Biology, Research and Analysis Methods, SOLUTE-CARRIER-PROTEIN, Model Organisms, medicine, Animals, data integration, 030304 developmental biology, Afferent Neurons, Reproducibility of Results, Cell Biology, zebrafish, biology.organism_classification, Ciliopathy, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], Biological Databases, Cellular Neuroscience, RNA, OSCP1, CiliaCarta
وصف الملف: application/pdf; text; image/pdf
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المؤلفون: Ibrahim A. Abu Zahira, Stef J.F. Letteboer, Azaria J.J.T. Rein, Alaa Darwish, Zeev Perles, Asaf Ta-Shma, Ronald Roepman, Sabrina Spittler, Avraham Shaag, Christine Edelbusch, Petra Pennekamp, Israel Amirav, Heike Olbrich, Dorus A. Mans, Alper Gezdirici, Nael Elias, Sandra Cindric, Oded Breuer, Miriam Schmidts, Isabella Aprea, Rim Hjeij, Tabea Nöthe-Menchen, Dinu Antony, Heymut Omran, Friederike Stuhlmann, Elif Yilmaz Gulec, Niki T. Loges, Orly Elpeleg, Gerard W. Dougherty, Revital Abitbul
المصدر: Plos Genetics, 14, e1007602
Plos Genetics, 14, 8, pp. e1007602
PLoS Genetics, Vol 14, Iss 8, p e1007602 (2018)
PLOS Geneticsمصطلحات موضوعية: 0301 basic medicine, Male, Cancer Research, Axoneme, Heart malformation, Genetic Linkage, Cell Cycle Proteins, 030105 genetics & heredity, Ciliopathies, Functional Laterality, Male infertility, Mice, Child, Genetics (clinical), Genetics, Mice, Knockout, Cilium, Homozygote, Nuclear Proteins, Middle Aged, Pedigree, Codon, Nonsense, Child, Preschool, Motile cilium, Female, Infertility, Adult, lcsh:QH426-470, Adolescent, Nonsense mutation, Biology, Polymorphism, Single Nucleotide, 03 medical and health sciences, Young Adult, All institutes and research themes of the Radboud University Medical Center, Exome Sequencing, medicine, Animals, Humans, Cilia, Molecular Biology, Ecology, Evolution, Behavior and Systematics, Infertility, Male, Infant, Axonemal Dyneins, medicine.disease, lcsh:Genetics, 030104 developmental biology, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], Gene Expression Regulation, Sperm Tail, Outer dynein arm
وصف الملف: application/pdf
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المؤلفون: Richard T. Pon, Ryan E. Lamont, Uwe Wolfrum, Robert A. Hegele, Dan Doherty, Fiona Stewart, Martin McKibbin, Jay Shendure, Grischa Toedt, Colin E. Willoughby, Jillian S. Parboosingh, Clem Donahue, Kirsten A. Wunderlich, Lijia Huang, Marius Ueffing, Hannah M. Mitchison, Nasrin Sorusch, Teunis J. P. van Dam, Zakia Abdelhamed, Kym M. Boycott, Francois P. Bernier, Mohammed A. Aldahmesh, Subaashini Natarajan, Bernard N. Chodirker, Carole Ober, Julie Higgins, Matthew Adams, Darren C. Tomlinson, Hilary E. Racher, Thanh Minh T. Nguyen, Ian G. Phelps, Andreas Giessl, Katarzyna Szymanska, Ewan E. Morrison, Albert E. Chudley, Fowzan S. Alkuraya, Panagiotis I. Sergouniotis, Patrick Frosk, Jacquelyn Bond, Miriam Schmidts, Susanne Roosing, Nicola Horn, Gabrielle Wheway, Sandra M. Bell, Carmel Toomes, Toby J. Gibson, Martijn A. Huynen, Philip L. Beales, Gisela G. Slaats, Julie Kennedy, Clare V. Logan, Oliver E. Blacque, Paul M. K. Gordon, Rachel H. Giles, Heymut Omran, Aizeddin A. Mhanni, A. James Barkovich, David A. Parry, A. Micheil Innes, Dorus A. Mans, Jeroen van Reeuwijk, Kristin Kessler, Louis Wolf, Shamsa Anazi, Evan A. Boyle, Karsten Boldt, Ronald Roepman, Joseph G. Gleeson, Andrew R. Webster, Selwa A. Al Hazzaa, Chris F. Inglehearn, Warren Herridge, Christian Thiel, Chandree L. Beaulieu, Colin A. Johnson, Stef J.F. Letteboer
المصدر: Nature cell biology
Nature Cell Biology, 17, 8, pp. 1074-87
Nature Cell Biology, 17, 1074-87
Nature Cell Biology, 17(8), 1074. Nature Publishing Groupمصطلحات موضوعية: PRPF31, Pregnancy Proteins, Inbred C57BL, Ciliopathies, Mice, Immunologic, Cerebellum, Databases, Genetic, Eye Abnormalities, Non-U.S. Gov't, Zebrafish, Exome sequencing, Mice, Knockout, Genetics, Research Support, Non-U.S. Gov't, Cilium, High-Throughput Nucleotide Sequencing, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Genomics, Kidney Diseases, Cystic, Phenotype, Kidney Diseases, RNA Interference, Abnormalities, Multiple, Functional genomics, Ciliary Motility Disorders, Genetic Markers, Ellis-Van Creveld Syndrome, Knockout, Jeune syndrome, Other Research Radboud Institute for Molecular Life Sciences [Radboudumc 0], Biology, Research Support, Transfection, Retina, Article, whole-genome siRNA screen, Joubert syndrome, N.I.H, Databases, Cystic, reverse genetics, Research Support, N.I.H., Extramural, Genetic, Cerebellar Diseases, Ciliogenesis, Suppressor Factors, Journal Article, Suppressor Factors, Immunologic, medicine, Animals, Humans, Abnormalities, Multiple, Genetic Predisposition to Disease, Photoreceptor Cells, Cilia, Genetic Testing, Caenorhabditis elegans, Extramural, Membrane Proteins, Proteins, Reproducibility of Results, Cell Biology, medicine.disease, Mice, Inbred C57BL, Cytoskeletal Proteins, Ciliopathy, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], HEK293 Cells, Mutation, ciliopathies, Genome-Wide Association Study
وصف الملف: image/pdf
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8دورية أكاديمية
المؤلفون: Miriam Schmidts, Yuqing Hou, Claudio R. Cortés, Dorus A. Mans, Celine Huber, Karsten Boldt, Mitali Patel, Jeroen van Reeuwijk, Jean-Marc Plaza, Sylvia E. C. van Beersum, Zhi Min Yap, Stef J
المصدر: Nature, Nature Communications. 6(1):1-14
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المؤلفون: Liyanne F.M. van de Laarschot, Rene H. M. te Morsche, Edgar S Wills, Nicola Horn, Marius Ueffing, Karsten Boldt, Dorus A. Mans, Ronald Roepman, Joost P.H. Drenth, Iris Geomini, Jeroen van Reeuwijk
المصدر: Human Molecular Genetics, 26, 21, pp. 4190-4202
Human Molecular Genetics, 26, 4190-4202مصطلحات موضوعية: 0301 basic medicine, Wnt1 Protein, Biology, Filamin, Endoplasmic Reticulum, 03 medical and health sciences, Gene Knockout Techniques, SEC63, Ciliogenesis, Genetics, FLNA, Humans, Cilia, Molecular Biology, Wnt Signaling Pathway, Genetics (clinical), beta Catenin, PRKCSH, Cysts, Liver Diseases, Calcium-Binding Proteins, Wnt signaling pathway, Intracellular Signaling Peptides and Proteins, Membrane Proteins, RNA-Binding Proteins, LRP5, alpha-Glucosidases, General Medicine, Cell biology, 030104 developmental biology, HEK293 Cells, Low Density Lipoprotein Receptor-Related Protein-5, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], Liver, WNT3A, Glucosidases, Molecular Chaperones
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9edac2b4fa6a4426659edd9e5a0b7252
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المؤلفون: Ronald Roepman, Anneke I. den Hollander, Frans P.M. Cremers, Alejandro Estrada-Cuzcano, Dorus A. Mans
المصدر: Human Molecular Genetics; Vol 21
Human Molecular Genetics, 21, R111-24
Human Molecular Genetics, 21, R1, pp. R111-24مصطلحات موضوعية: Retinal degeneration, Genetics and epigenetic pathways of disease [NCMLS 6], genetic structures, Leber Congenital Amaurosis, Gene mutation, Biology, Ciliopathies, 03 medical and health sciences, chemistry.chemical_compound, Macular Degeneration, Mice, 0302 clinical medicine, Dogs, Retinitis pigmentosa, Genetics, medicine, Animals, Photoreceptor Cells, Cilia, Molecular Biology, Genetics (clinical), Genetic Association Studies, Vision, Ocular, Zebrafish, 030304 developmental biology, 0303 health sciences, Gene therapy of the human retina, Cilium, Retinal Degeneration, Genetic Variation, Retinal, Biological Transport, General Medicine, Genetic Therapy, medicine.disease, Disease Models, Animal, chemistry, 030221 ophthalmology & optometry, sense organs, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], Neuroscience, Retinal Dystrophies, Retinitis Pigmentosa
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84477097f9acb852bd45ac9204f00e62