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1دورية أكاديمية
المؤلفون: Sterre P.E. Willems, Annet Simons, Joline L. Saes, Marjan Weiss, Sanna Rijpma, Selene Schoormans, Karina Meijer, Marjon H. Cnossen, Roger E.G. Schutgens, Nick van Es, Laurens Nieuwenhuizen, Paul L. den Exter, Ilmar C. Kruis, Nicole M.A. Blijlevens, Waander L. van Heerde, Saskia E.M. Schols
المصدر: Research and Practice in Thrombosis and Haemostasis, Vol 8, Iss 4, Pp 102477- (2024)
مصطلحات موضوعية: blood coagulation disorders, exome sequencing, fibrinolysis, hemostasis, inherited, Diseases of the blood and blood-forming organs, RC633-647.5
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Abderrahim Marouane, Kornelia Neveling, A. Chantal Deden, Simone van den Heuvel, Dimitra Zafeiropoulou, Steven Castelein, Frank van de Veerdonk, David A. Koolen, Annet Simons, Richard Rodenburg, Dineke Westra, Arjen R. Mensenkamp, Nicole de Leeuw, Marjolijn Ligtenberg, Rene Matthijsse, Rolph Pfundt, Erik Jan Kamsteeg, Han G. Brunner, Christian Gilissen, Ilse Feenstra, Willem P. de Boode, Helger G. Yntema, Wendy A. G. van Zelst-Stams, Marcel Nelen, Lisenka E. L. M. Vissers
المصدر: Frontiers in Genetics, Vol 14 (2024)
مصطلحات موضوعية: rapid exome sequencing, diagnostic workflow, turnaround time, clinical outcome, diagnostic yield, Genetics, QH426-470
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Anne Hebert, Annet Simons, Janneke HM Schuurs-Hoeijmakers, Hans JPM Koenen, Evelien Zonneveld-Huijssoon, Stefanie SV Henriet, Ellen JH Schatorjé, Esther PAH Hoppenreijs, Erika KSM Leenders, Etienne JM Janssen, Gijs WE Santen, Sonja A de Munnik, Simon V van Reijmersdal, Esther van Rijssen, Simone Kersten, Mihai G Netea, Ruben L Smeets, Frank L van de Veerdonk, Alexander Hoischen, Caspar I van der Made
المصدر: eLife, Vol 11 (2022)
مصطلحات موضوعية: trio-based whole exome sequencing, de novo variants, inborn errors of immunity, primary immunodeficiencies, Medicine, Science, Biology (General), QH301-705.5
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Kim Elsink, Manon M. H. Huibers, Iris H. I. M. Hollink, Annet Simons, Evelien Zonneveld-Huijssoon, Lars T. van der Veken, Helen L. Leavis, Stefanie S. V. Henriet, Marcel van Deuren, Frank L. van de Veerdonk, Judith Potjewijd, Dagmar Berghuis, Virgil A. S. H. Dalm, Clementien L. Vermont, Annick A. J. M. van de Ven, Annechien J. A. Lambeck, Kristin M. Abbott, P. Martin van Hagen, Godelieve J. de Bree, Taco W. Kuijpers, Geert W. J. Frederix, Mariëlle E. van Gijn, Joris M. van Montfrans, the Genetics First for Primary Immunodeficiency Disorders Consortium, Aerde van, KJ, Altenburg, J, Armbrust W, Barendregt, BH, Berg van den, JM, Bredius, RGM, Buddingh, EP, Burg van der, M, Ellerbroek, PM, Ernst, RF, Fraaij, PLA, Hermans, M, Hoischen, A, Hout van der, AH, Jansen, MHA, Jolink, H, Jonkers, RE, Laar van, JAM, Leeuw de, K, Legger, GE, Leijten, EFA, Limper, M, Lindemans, CA, Oever ten, J, Pieterse, M, Rombach, SM, Rossum van, AMC, Rutgers, A, Santen, GWE, Schölvinck, EH, Simon, A, Stol, K, Vervenne RML
المصدر: Frontiers in Immunology, Vol 12 (2021)
مصطلحات موضوعية: next-generation sequencing, inborn errors of immunity, diagnostic yield, gene panel, clinical implication, Immunologic diseases. Allergy, RC581-607
وصف الملف: electronic resource
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5دورية أكاديمية
المؤلفون: Xavier Solanich, Gardenia Vargas-Parra, Caspar I. van der Made, Annet Simons, Janneke Schuurs-Hoeijmakers, Arnau Antolí, Jesús del Valle, Gemma Rocamora-Blanch, Fernando Setién, Manel Esteller, Simon V. van Reijmersdal, Antoni Riera-Mestre, Joan Sabater-Riera, Gabriel Capellá, Frank L. van de Veerdonk, Ben van der Hoven, Xavier Corbella, Alexander Hoischen, Conxi Lázaro
المصدر: Frontiers in Immunology, Vol 12 (2021)
مصطلحات موضوعية: COVID-19, SARS-CoV-2, host genetics, TLR7, immunodeficiency, genetic screening, Immunologic diseases. Allergy, RC581-607
وصف الملف: electronic resource
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6دورية أكاديمية
المؤلفون: Altuna Halilovic, Dagmar I. Verweij, Annet Simons, Marian J. P. L. Stevens-Kroef, Susan Vermeulen, Janet Elsink, Bastiaan B. J. Tops, Irene Otte-Höller, Jeroen A. W. M. van der Laak, Carlijn van de Water, Oliver B. A. Boelens, Margrethe S. Schlooz-Vries, Jeroen R. Dijkstra, Iris D. Nagtegaal, Jolien Tol, Patricia H. J. van Cleef, Paul N. Span, Peter Bult
المصدر: Scientific Reports, Vol 9, Iss 1, Pp 1-10 (2019)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2045-2322
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7دورية أكاديمية
المؤلفون: Peer Arts, Annet Simons, Mofareh S. AlZahrani, Elanur Yilmaz, Eman AlIdrissi, Koen J. van Aerde, Njood Alenezi, Hamza A. AlGhamdi, Hadeel A. AlJubab, Abdulrahman A. Al-Hussaini, Fahad AlManjomi, Alaa B. Alsaad, Badr Alsaleem, Abdulrahman A. Andijani, Ali Asery, Walid Ballourah, Chantal P. Bleeker-Rovers, Marcel van Deuren, Michiel van der Flier, Erica H. Gerkes, Christian Gilissen, Murad K. Habazi, Jayne Y. Hehir-Kwa, Stefanie S. Henriet, Esther P. Hoppenreijs, Sarah Hortillosa, Chantal H. Kerkhofs, Riikka Keski-Filppula, Stefan H. Lelieveld, Khurram Lone, Marius A. MacKenzie, Arjen R. Mensenkamp, Jukka Moilanen, Marcel Nelen, Jaap ten Oever, Judith Potjewijd, Pieter van Paassen, Janneke H. M. Schuurs-Hoeijmakers, Anna Simon, Tomasz Stokowy, Maartje van de Vorst, Maaike Vreeburg, Anja Wagner, Gijs T. J. van Well, Dimitra Zafeiropoulou, Evelien Zonneveld-Huijssoon, Joris A. Veltman, Wendy A. G. van Zelst-Stams, Eissa A. Faqeih, Frank L. van de Veerdonk, Mihai G. Netea, Alexander Hoischen
المصدر: Genome Medicine, Vol 11, Iss 1, Pp 1-15 (2019)
مصطلحات موضوعية: Routine diagnostics, Genetic diagnosis, Exome sequencing, Primary immunodeficiencies, Medicine, Genetics, QH426-470
وصف الملف: electronic resource
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8دورية أكاديمية
المؤلفون: Jeroen D Langereis, Renate G van derMolen, Corrie deKat Angelino, Stefanie S Henriet, Marien I deJonge, Irma Joosten, Annet Simons, Janneke HM Schuurs‐Hoeijmakers, Marcel vanDeuren, Koen vanAerde, Michiel van derFlier
المصدر: Clinical & Translational Immunology, Vol 10, Iss 4, Pp n/a-n/a (2021)
مصطلحات موضوعية: complement, factor D, haplodeficiency, immunodeficiency, infection, vaccination, Immunologic diseases. Allergy, RC581-607
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2050-0068
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9دورية أكاديمية
المؤلفون: Lisa G. Riley, Matthew M. Heeney, Joëlle Rudinger-Thirion, Magali Frugier, Dean R. Campagna, Ronghao Zhou, Gregory A. Hale, Lee M. Hilliard, Joel A. Kaplan, Janet L. Kwiatkowski, Colin A. Sieff, David P. Steensma, Alexander J. Rennings, Annet Simons, Nicolaas Schaap, Richard J. Roodenburg, Tjitske Kleefstra, Leonor Arenillas, Josep Fita-Torró, Rasha Ahmed, Miguel Abboud, Elie Bechara, Roula Farah, Rienk Y. J. Tamminga, Sylvia S. Bottomley, Mayka Sanchez, Gerwin Huls, Dorine W. Swinkels, John Christodoulou, Mark D. Fleming
المصدر: Haematologica, Vol 103, Iss 12 (2018)
مصطلحات موضوعية: Diseases of the blood and blood-forming organs, RC633-647.5
وصف الملف: electronic resource
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10
المؤلفون: Lisa U. Teufel, Caspar I. van der Made, Viola Klück, Annet Simons, Alexander Hoischen, Vivian Vernimmen, Leo A.B. Joosten, Rob J.W. Arts
المساهمون: Genetica & Celbiologie, MUMC+: DA KG Polikliniek (9), RS: FHML non-thematic output
المصدر: Cytokine, 162
Cytokine, 162:156102. Elsevier Scienceمصطلحات موضوعية: Cancer development and immune defence Radboud Institute for Health Sciences [Radboudumc 2], All institutes and research themes of the Radboud University Medical Center, Immunology, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], Immunology and Allergy, Hematology, Molecular Biology, Biochemistry
وصف الملف: application/pdf