検索結果 - Agata Szperl

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  1. 1
    Functional Characterization of Mutations in the Myosin Vb Gene Associated With Microvillus Inclusion Disease

    Functional Characterization of Mutations in the Myosin Vb Gene Associated With Microvillus Inclusion Disease 著者: Agata Szperl, Magdalena Golachowska, Marcel Bruinenberg, Rytis Prekeris, A.M.W.H. Thunnissen, Arend Karrenbeld, Gerard Dijkstra, Dick Hoekstra, David F. Mercer, Janusz Książyk, Cisca Wijmenga, Martin C. Wapenaar, Edmond H.H.M. Rings, Sven CD van Ijzendoorn

    出版事項 2011
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    Artigo
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  2. 2
    <i>MEFV</i>mutations affecting pyrin amino acid 577 cause autosomal dominant autoinflammatory disease

    <i>MEFV</i>mutations affecting pyrin amino acid 577 cause autosomal dominant autoinflammatory disease 著者: Monique Stoffels, Agata Szperl, Anna Simon, Mihai G. Netea, Theo S. Plantinga, Marcel van Deuren, Sylvia Kamphuis, Helen J. Lachmann, Edwin Cuppen, Wigard P. Kloosterman, Joost Frenkel, Cleo C. van Diemen, Cisca Wijmenga, Mariëlle van Gijn, Jos W.M. van der Meer

    出版事項 2013
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    Artigo
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  3. 3
    Fine mapping of the celiac disease-associated LPP locus reveals a potential functional variant

    Fine mapping of the celiac disease-associated LPP locus reveals a potential functional variant 著者: Rodrigo Coutinho de Almeida, Isis Ricaño-Ponce, Vinod Kumar, Patrick Deelen, Agata Szperl, Gosia Trynka, Javier Gutierrez‐Achury, Alexandros Kanterakis, Harm-Jan Westra, Lude Franke, Morris A. Swertz, Mathieu Platteel, José Ramón Bilbao, Donatella Barisani, Luigi Greco, Luisa Mearin, Victorien M. Wolters, Chris J. Mulder, Maria Cristina Mazzilli, Ajit Sood, Božena Cukrowská, Concepción Núñez, Riccardo Pratesi, Sebo Withoff, Cisca Wijmenga

    出版事項 2013
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    Revisão
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  4. 4
    Improving coeliac disease risk prediction by testing non-HLA variants additional to HLA variants

    Improving coeliac disease risk prediction by testing non-HLA variants additional to HLA variants 著者: Jihane Romanos, Anna Rosén, Vinod Kumar, Gosia Trynka, Lude Franke, Agata Szperl, Javier Gutierrez‐Achury, Cleo C. van Diemen, Roan Kanninga, Soesma A. Jankipersadsing, Andrea K. Steck, Georges Eisenbarth, David A. van Heel, Božena Cukrowská, Valentina Bruno, Maria Cristina Mazzilli, Concepción Núñez, José Ramón Bilbao, M. L. Mearin, Donatella Barisani, Marian Rewers, Jill M. Norris, Anneli Ivarsson, H. Marieke Boezen, Edwin Liu, Cisca Wijmenga

    出版事項 2013
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    Artigo
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  5. 5
    Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease

    Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease 著者: Gosia Trynka, Karen A. Hunt, Nicholas Bockett, Jihane Romanos, Vanisha Mistry, Agata Szperl, Sjoerd F. Bakker, Maria Teresa Bardella, Leena Bhaw, Gemma Castillejo, Emilio G. de la Concha, Rodrigo Coutinho de Almeida, Kerith‐Rae Dias, Cleo C. van Diemen, P Dubois, Richard H. Duerr, Sarah Edkins, Lude Franke, Karin Fransén, Javier Cuesta, Graham Heap, Barbara Hrdličková, Sarah Hunt, Leticia Plaza Izurieta, Valentina Izzo, Leo A. B. Joosten, Cordelia Langford, Maria Cristina Mazzilli, Charles A. Mein, Vandana Midah, Mitja Mitrovič, Barbara Mora, Marinita Morelli, Sarah Nutland, Concepción Núñez, Suna Önengüt-Gümüşcü, Kerra Pearce, Mathieu Platteel, Isabel Polanco, Simon Potter, Carmen Ribes‐Koninckx, Isis Ricaño-Ponce, Stephen S. Rich, Anna Rybak, José Luis Santiago, Sabyasachi Senapati, Ajit Sood, Hania Szajewska, Riccardo Troncone, Jezabel Varadé, Chris Wallace, Victorien M. Wolters, Alexandra Zhernakova, B.K. Thelma, Božena Cukrowská, Elena Urcelay, José Ramón Bilbao, M. L. Mearin, Donatella Barisani, Jeffrey C. Barrett, Vincent Plagnol, Panos Deloukas, Cisca Wijmenga, David A. van Heel

    出版事項 2011
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    Artigo
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