المؤلفون: Grace Mercedes Freke, Tiago Martins, Rosalind Jane Davies, Tina Beyer, Marian Seda, Emma Peskett, Naila Haq, Avishek Prasai, Georg Otto, Jeshmi Jeyabalan Srikaran, Victor Hernandez, Gaurav D. Diwan, Robert B. Russell, Marius Ueffing, Martina Huranova, Karsten Boldt, Philip L. Beales, Dagan Jenkins

المصدر: Cells, Vol 12, Iss 22, p 2662 (2023)

مصطلحات موضوعية: Bardet–Biedl syndrome, primary cilia, epithelial-to-mesenchymal transition, kidney, collecting duct cells, Wnt signalling, Cytology, QH573-671

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2073-4409/12/22/2662; https://doaj.org/toc/2073-4409

URL الوصول: https://doaj.org/article/f4e1c8b64e9849f298d308a8c77caed5

المؤلفون: Piranit Kantaputra, Prapai Dejkhamron, Rekwan Sittiwangkul, Kamornwan Katanyuwong, Chumpol Ngamphiw, Nuntigar Sonsuwan, Worrachet Intachai, Sissades Tongsima, Philip L. Beales, Worakanya Buranaphatthana

المصدر: Genes, Vol 14, Iss 1, p 84 (2022)

مصطلحات موضوعية: ciliopathy, dental anomalies, tooth malformations, Ellis–van Creveld syndrome, Bardet–Biedl syndrome, primary cilia, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2073-4425/14/1/84; https://doaj.org/toc/2073-4425

URL الوصول: https://doaj.org/article/de692d39077d42af94ecbf6d62843b1d

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

URL الوصول: https://doaj.org/article/22bd7d5adfdc431187d2dc80408e8af0

المؤلفون: Christopher J. M. Piper, Meredyth G. Ll. Wilkinson, Claire T. Deakin, Georg W. Otto, Stefanie Dowle, Chantal L. Duurland, Stuart Adams, Emiliano Marasco, Elizabeth C. Rosser, Anna Radziszewska, Rita Carsetti, Yiannis Ioannou, Philip L. Beales, Daniel Kelberman, David A. Isenberg, Claudia Mauri, Kiran Nistala, Lucy R. Wedderburn

المصدر: Frontiers in Immunology, Vol 9 (2018)

مصطلحات موضوعية: immature transitional B cells, B cells, juvenile dermatomyositis, toll-like receptor 7, interferon alpha, interleukin-10, Immunologic diseases. Allergy, RC581-607

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fimmu.2018.01372/full; https://doaj.org/toc/1664-3224

URL الوصول: https://doaj.org/article/d4e3bfbc2edb40d1b0de07db8cb6975c

المؤلفون: Kirsten Y. Renkema, Rachel H. Giles, Marc R. Lilien, Philip L. Beales, Ronald Roepman, Machteld M. Oud, Heleen H. Arts, Nine V. A. M. Knoers

المصدر: Frontiers in Pediatrics, Vol 6 (2018)

مصطلحات موضوعية: cilia, pediatric kidney disease, nephronophthisis, renal ciliopathy, genetics, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: http://journal.frontiersin.org/article/10.3389/fped.2018.00131/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/590e498d10ab4fd8b983ff27a9f4a513

المؤلفون: Elizabeth Forsythe, Joanna Kenny, Chiara Bacchelli, Philip L. Beales

المصدر: Frontiers in Pediatrics, Vol 6 (2018)

مصطلحات موضوعية: Bardet–Biedl syndrome, genetic therapies, pharmacogenomics, genome editing, targeted therapies, drug repurposing, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: http://journal.frontiersin.org/article/10.3389/fped.2018.00023/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/fc765c10dfe2480eb044a7883feb5da1

المؤلفون: Fahad Mahmood, Monika Mozere, Anselm A. Zdebik, Horia C. Stanescu, Jonathan Tobin, Philip L. Beales, Robert Kleta, Detlef Bockenhauer, Claire Russell

المصدر: Disease Models & Mechanisms, Vol 6, Iss 3, Pp 652-660 (2013)

مصطلحات موضوعية: Medicine, Pathology, RB1-214

وصف الملف: electronic resource

Relation: http://dmm.biologists.org/content/6/3/652; https://doaj.org/toc/1754-8403; https://doaj.org/toc/1754-8411

URL الوصول: https://doaj.org/article/69408ad6f80947c3be5d999f26700f6a

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

URL الوصول: https://doaj.org/article/fe526948b1b844108e793383fc2005c8

المؤلفون: Miriam Schmidts, Philip L. Beales

المصدر: Pediatric Kidney Disease ISBN: 9783031116643

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::db7bf3705ddede5c48f19043a26e3d62
https://doi.org/10.1007/978-3-031-11665-0_9

المؤلفون: Zeineb Bakey, Oscar A. Cabrera, Julia Hoefele, Dinu Antony, Kaman Wu, Michael W. Stuck, Dimitra Micha, Thibaut Eguether, Abigail O. Smith, Nicole N. van der Wel, Matias Wagner, Lara Strittmatter, Philip L. Beales, Julie A. Jonassen, Isabelle Thiffault, Maxime Cadieux-Dion, Laura Boyes, Saba Sharif, Beyhan Tüysüz, Desiree Dunstheimer, Hans W.M. Niessen, William Devine, Cecilia W Lo, Hannah M. Mitchison, Miriam Schmidts, Gregory J. Pazour

المساهمون: Human genetics, ACS - Atherosclerosis & ischemic syndromes, ACS - Microcirculation, AMS - Musculoskeletal Health, AMS - Tissue Function & Regeneration, ACS - Heart failure & arrhythmias, Pathology

المصدر: PLoS Genetics. Public Library of Science
Plos Genetics, 19, 6
Bakey, Z, Cabrera, O, Hoefele, J, Antony, D, Wu, K, Stuck, M, Micha, D, Eguether, T, Smith, A, van der Wel, N N, Wagner, M, Strittmatter, L, Beales, P, Jonassen, J, Thiffault, I, Cadieux-Dion, M, Boyes, L, Sharif, S, Tüysüz, B, Dunstheimer, D, Niessen, J W M, Devine, W, Lo, C, Mitchison, H, Schmidt, M & Pazour, G 2023, ' IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans ', PLoS Genetics .
medRxiv

مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5278d59441738adb0db2fd0d292689c8
https://research.vumc.nl/en/publications/c621ce8b-a95b-4005-9065-7aa368d55761