Hasil Pencarian - Annet Simons

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  1. 1
    Complement factor D haplodeficiency is associated with a reduced complement activation speed and diminished bacterial killing

    Complement factor D haplodeficiency is associated with a reduced complement activation speed and diminished bacterial killing oleh 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

    Diterbitkan 2021-01-01
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  2. 2
    Targeted exome analysis in patients with rare bleeding disorders: data from the Rare Bleeding Disorders in the Netherlands study

    Targeted exome analysis in patients with rare bleeding disorders: data from the Rare Bleeding Disorders in the Netherlands study oleh 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

    Diterbitkan 2024-05-01
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  3. 3
    Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort study

    Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort study oleh 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

    Diterbitkan 2022-10-01
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  4. 4
    HER2, chromosome 17 polysomy and DNA ploidy status in breast cancer; a translational study

    HER2, chromosome 17 polysomy and DNA ploidy status in breast cancer; a translational study oleh 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

    Diterbitkan 2019-08-01
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  5. 5
    Implementation of Early Next-Generation Sequencing for Inborn Errors of Immunity: A Prospective Observational Cohort Study of Diagnostic Yield and Clinical Implications in Dutch Genome Diagnostic Centers

    Implementation of Early Next-Generation Sequencing for Inborn Errors of Immunity: A Prospective Observational Cohort Study of Diagnostic Yield and Clinical Implications in Dutch Ge... oleh Kim Elsink, Manon M. H. Huibers, Iris H. I. M. Hollink, Annet Simons, 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

    Diterbitkan 2021-12-01
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  6. 6
    Lessons learned from rapid exome sequencing for 575 critically ill patients across the broad spectrum of rare disease

    Lessons learned from rapid exome sequencing for 575 critically ill patients across the broad spectrum of rare disease oleh Abderrahim Marouane, Abderrahim Marouane, Kornelia Neveling, 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, Lisenka E. L. M. Vissers

    Diterbitkan 2024-01-01
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  7. 7
    The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2

    The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2 oleh 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

    Diterbitkan 2018-12-01
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  8. 8
    Genetic Screening for TLR7 Variants in Young and Previously Healthy Men With Severe COVID-19

    Genetic Screening for TLR7 Variants in Young and Previously Healthy Men With Severe COVID-19 oleh Xavier Solanich, Gardenia Vargas-Parra, Gardenia Vargas-Parra, Caspar I. van der Made, Caspar I. van der Made, Caspar I. van der Made, Annet Simons, Janneke Schuurs-Hoeijmakers, Arnau Antolí, Jesús del Valle, Jesús del Valle, Gemma Rocamora-Blanch, Fernando Setién, Manel Esteller, Manel Esteller, Manel Esteller, Manel Esteller, Simon V. van Reijmersdal, Antoni Riera-Mestre, Antoni Riera-Mestre, Joan Sabater-Riera, Gabriel Capellá, Gabriel Capellá, Frank L. van de Veerdonk, Frank L. van de Veerdonk, Ben van der Hoven, Xavier Corbella, Xavier Corbella, Alexander Hoischen, Alexander Hoischen, Alexander Hoischen, Conxi Lázaro, Conxi Lázaro

    Diterbitkan 2021-07-01
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  9. 9
    Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies

    Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies oleh 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

    Diterbitkan 2019-06-01
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