Works matching IS 02719142 AND DT 2013 AND VI 33 AND IP 6


Results: 14
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    A Novel Gain-of-Function IKBA Mutation Underlies Ectodermal Dysplasia with Immunodeficiency and Polyendocrinopathy.

    Published in:
    Journal of Clinical Immunology, 2013, v. 33, n. 6, p. 1088, doi. 10.1007/s10875-013-9906-1
    By:
    • Schimke, Lena;
    • Rieber, Nikolaus;
    • Rylaarsdam, Stacey;
    • Cabral-Marques, Otávio;
    • Hubbard, Nicholas;
    • Puel, Anne;
    • Kallmann, Laura;
    • Sombke, Stephanie;
    • Notheis, Gundula;
    • Schwarz, Hans-Peter;
    • Kammer, Birgit;
    • Hökfelt, Tomas;
    • Repp, Reinald;
    • Picard, Capucine;
    • Casanova, Jean-Laurent;
    • Belohradsky, Bernd;
    • Albert, Michael;
    • Ochs, Hans;
    • Renner, Ellen;
    • Torgerson, Troy
    Publication type:
    Article
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    A Phenotypic Approach for IUIS PID Classification and Diagnosis: Guidelines for Clinicians at the Bedside.

    Published in:
    Journal of Clinical Immunology, 2013, v. 33, n. 6, p. 1078, doi. 10.1007/s10875-013-9901-6
    By:
    • Bousfiha, Ahmed;
    • Jeddane, Leïla;
    • Ailal, Fatima;
    • Al Herz, Waleed;
    • Conley, Mary;
    • Cunningham-Rundles, Charlotte;
    • Etzioni, Amos;
    • Fischer, Alain;
    • Franco, Jose;
    • Geha, Raif;
    • Hammarström, Lennart;
    • Nonoyama, Shigeaki;
    • Ochs, Hans;
    • Roifman, Chaim;
    • Seger, Reinhard;
    • Tang, Mimi;
    • Puck, Jennifer;
    • Chapel, Helen;
    • Notarangelo, Luigi;
    • Casanova, Jean-Laurent
    Publication type:
    Article
    6

    The Spread of the J Project.

    Published in:
    Journal of Clinical Immunology, 2013, v. 33, n. 6, p. 1037, doi. 10.1007/s10875-013-9905-2
    By:
    • Horváth, Zsuzsa;
    • Rezaei, Nima;
    • Reisli, Ismail;
    • Tuzankina, Irina;
    • Otarbayev, Nurzhan;
    • Popandopulo, Panteley;
    • Maródi, László
    Publication type:
    Article
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