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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: Asaf Ta-Shma, Rim Hjeij, Zeev Perles, Gerard W Dougherty, Ibrahim Abu Zahira, Stef J F Letteboer, Dinu Antony, Alaa Darwish, Dorus A Mans, Sabrina Spittler, Christine Edelbusch, Sandra Cindrić, Tabea Nöthe-Menchen, Heike Olbrich, Friederike Stuhlmann, Isabella Aprea, Petra Pennekamp, Niki T Loges, Oded Breuer, Avraham Shaag, Azaria J J T Rein, Elif Yilmaz Gulec, Alper Gezdirici, Revital Abitbul, Nael Elias, Israel Amirav, Miriam Schmidts, Ronald Roepman, Orly Elpeleg, Heymut Omran
المصدر: PLoS Genetics, Vol 14, Iss 8, p e1007602 (2018)
وصف الملف: electronic resource
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3دورية 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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4دورية 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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5
المؤلفون: Thanh-Minh T, Nguyen, Sarah, Hull, Ronald, Roepman, L Ingeborgh, van den Born, Machteld M, Oud, Erik, de Vrieze, Lisette, Hetterschijt, Stef J F, Letteboer, Sylvia E C, van Beersum, Ellen A, Blokland, Helger G, Yntema, Frans P M, Cremers, Paul A, van der Zwaag, Gavin, Arno, Erwin, van Wijk, Andrew R, Webster, Lonneke, Haer-Wigman
المصدر: Journal of Medical Genetics
مصطلحات موضوعية: Adult, Male, Mutation, Missense, AHI1, non-syndromic retinitis pigmentosa, Kidney Diseases, Cystic, Middle Aged, Retina, Pedigree, Adaptor Proteins, Vesicular Transport, Protein Domains, Cerebellum, Humans, Abnormalities, Multiple, Female, WD40 domain, Eye Abnormalities, New Disease Loci, Jouberin, exome sequencing, Retinitis Pigmentosa, Adaptor Proteins, Signal Transducing
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6
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: 0301 basic medicine, medicine.medical_specialty, Multidisciplinary, business.industry, Science, General surgery, General Physics and Astronomy, General Chemistry, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, 030104 developmental biology, Intraflagellar transport, medicine, business, Jeune asphyxiating thoracic dystrophy
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7دورية 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