检索结果 - Clotilde Mircher

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  1. 1
    The 50th anniversary of the discovery of trisomy 21: The past, present, and future of research and treatment of Down syndrome

    The 50th anniversary of the discovery of trisomy 21: The past, present, and future of research and treatment of Down syndrome 由 André Mégarbané, Aimé Ravel, Clotilde Mircher, Franck Sturtz, Yann Grattau, M O Rethoré, Jean‐Maurice Delabar, William C. Mobley

    出版 2009
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  2. 2
    No association between common polymorphisms in genes of folate and homocysteine metabolism and the risk of Down's syndrome among French mothers

    No association between common polymorphisms in genes of folate and homocysteine metabolism and the risk of Down's syndrome among French mothers 由 Abalo Chango, Nathalie Fillon-Emery, Clotilde Mircher, Henri Bléhaut, Daniel Lambert, Bernard Herbeth, S. Jill James, M O Rethoré, J.P. Nicolas

    出版 2005
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  3. 3
    Acute Regression in Young People with Down Syndrome

    Acute Regression in Young People with Down Syndrome 由 Clotilde Mircher, Cécile Cieuta‐Walti, Isabelle Marey, Anne‐Sophie Rebillat, L Cretu, Eliane Milenko, Martine Conte, Franck Sturtz, M O Rethoré, Aimé Ravel

    出版 2017
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  4. 4
    Early detection and treatment of obstructive sleep apnoea in infants with Down syndrome: a prospective, non-randomised, controlled, interventional study

    Early detection and treatment of obstructive sleep apnoea in infants with Down syndrome: a prospective, non-randomised, controlled, interventional study 由 Brigitte Fauroux, Silvia Sacco, V. Couloigner, Alessandro Amaddeo, Aimé Ravel, Emmanuelle Prioux, Jeanne Toulas, Cécile Cieuta‐Walti, Hervé Walti, Romain Luscan, Ségolène Falquero, Manon Clert, Marie-Anne Caillaud, Livio De Sanctis, Sonia Khirani, Isabelle Marey, Clotilde Mircher

    出版 2024
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  5. 5
    Trisomy for Synaptojanin1 in Down syndrome is functionally linked to the enlargement of early endosomes

    Trisomy for Synaptojanin1 in Down syndrome is functionally linked to the enlargement of early endosomes 由 Jack‐Christophe Cossec, Jérémie Lavaur, Diego E. Berman, Isabelle Rivals, Alexander Hoischen, Samantha Stora, Clémentine Ripoll, Clotilde Mircher, Yann Grattau, Jean‐Christophe Olivo‐Marín, Fabrice de Chaumont, Magalie Lecourtois, Stylianos E. Antonarakis, Joris A. Veltman, Jean M. Delabar, Charles Duyckaerts, Gilbert Di Paolo, Marie‐Claude Potier

    出版 2012
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  6. 6
    Autoimmunity in Down’s syndrome via cytokines, CD4 T cells and CD11c+ B cells

    Autoimmunity in Down’s syndrome via cytokines, CD4 T cells and CD11c+ B cells 由 Louise Malle, Roosheel S. Patel, Marta Martín-Fernández, O’Jay Stewart, Quentin Philippot, Sofija Buta, Ashley Richardson, Vanessa Barcessat, Justin Taft, Paul Bastard, Julie Samuels, Clotilde Mircher, Anne‐Sophie Rebillat, Louise Maillebouis, Marie Vilaire-Meunier, Kevin Tuballes, Brad R. Rosenberg, Rebecca Trachtman, Jean‐Laurent Casanova, Luigi D. Notarangelo, Sacha Gnjatic, Douglas Bush, Dusan Bogunovic

    出版 2023
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  7. 7
    Three Copies of Four Interferon Receptor Genes Underlie a Mild Type I Interferonopathy in Down Syndrome

    Three Copies of Four Interferon Receptor Genes Underlie a Mild Type I Interferonopathy in Down Syndrome 由 Xiao‐Fei Kong, Lisa Worley, Darawan Rinchai, Vincent Bondet, Puthen V. Jithesh, Marie Goulet, Emilie Nonnotte, Anne Sophie Rebillat, Martine Conte, Clotilde Mircher, Nicolas Gürtler, Luyan Liu, Mélanie Migaud, Mohammed Elanbari, Tanwir Habib, S. Cindy, Jacinta Bustamante, Laurent Abel, Aimé Ravel, Stanislas Lyonnet, Arnold Munnich, Darragh Duffy, Damien Chaussabel, Jean‐Laurent Casanova, Stuart G. Tangye, Stéphanie Boisson‐Dupuis, Anne Puel

    出版 2020
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  8. 8
    Diagnostic and prognostic performance and longitudinal changes in plasma neurofilament light chain concentrations in adults with Down syndrome: a cohort study

    Diagnostic and prognostic performance and longitudinal changes in plasma neurofilament light chain concentrations in adults with Down syndrome: a cohort study 由 María Carmona‐Iragui, Daniel Alcolea, Isabel Barroeta, Laura Videla, Laia Muñoz, Kathyrn L Van Pelt, Frederick A. Schmitt, Donita Lightner, Lisa Koehl, Gregory A. Jicha, Silvia Sacco, Clotilde Mircher, Sarah E. Pape, Rosalyn Hithersay, I. C. H. Clare, Anthony Holland, Georg Nübling, Johannes Levin, Shahid Zaman, André Strydom, Anne‐Sophie Rebillat, Elizabeth Head, Rafael Blesa, Alberto Lleó, Juan Fortea

    出版 2021
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  9. 9
    Update on Kleefstra Syndrome

    Update on Kleefstra Syndrome 由 Marjolein H. Willemsen, Anneke T. Vulto‐van Silfhout, Willy M. Nillesen, W.M. Wissink-Lindhout, Hans van Bokhoven, N. Philip, Elizabeth Berry‐Kravis, Usha Kini, Conny M.A. van Ravenswaaij‐Arts, Barbara Delle Chiaie, A. Micheil Innes, Gunnar Houge, T Kosonen, Kirsten Cremer, Madeleine Fannemel, Asbjørg Stray‐Pedersen, William Reardon, Jaakko Ignatius, Katherine Lachlan, Clotilde Mircher, P.T.J.M. Helderman van den Enden, Mathilde Mastebroek, Petra E. Cohn‐Hokke, Helger G. Yntema, Séverine Drunat, Tjitske Kleefstra

    出版 2011
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