Hasil Pencarian - Fabienne Jabot‐Hanin

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  1. 1
    Four Unique Genetic Variants in Three Genes Account for 62.7% of Early-Onset Severe Retinal Dystrophy in Chile: Diagnostic and Therapeutic Consequences

    Four Unique Genetic Variants in Three Genes Account for 62.7% of Early-Onset Severe Retinal Dystrophy in Chile: Diagnostic and Therapeutic Consequences oleh Rene Moya, Clémentine Angée, Sylvain Hanein, Fabienne Jabot-Hanin, Josseline Kaplan, Isabelle Perrault, Jean-Michel Rozet, Lucas Fares Taie

    Diterbitkan 2024-06-01
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  2. 2
    TUBB1 mutations cause thyroid dysgenesis associated with abnormal platelet physiology

    TUBB1 mutations cause thyroid dysgenesis associated with abnormal platelet physiology oleh Athanasia Stoupa, Frédéric Adam, Dulanjalee Kariyawasam, Catherine Strassel, Sanjay Gawade, Gabor Szinnai, Alexandre Kauskot, Dominique Lasne, Carsten Janke, Kathiresan Natarajan, Alain Schmitt, Christine Bole‐Feysot, Patrick Nitschke, Juliane Léger, Fabienne Jabot‐Hanin, Frédéric Tores, Anita Michel, Arnold Munnich, Claude Besmond, Raphaël Scharfmann, François Lanza, Delphine Borgel, Michel Polak, Aurore Carré

    Diterbitkan 2018-12-01
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  3. 3
    Genome-wide association study of resistance to Mycobacterium tuberculosis infection identifies a locus at 10q26.2 in three distinct populations.

    Genome-wide association study of resistance to Mycobacterium tuberculosis infection identifies a locus at 10q26.2 in three distinct populations. oleh Jocelyn Quistrebert, Marianna Orlova, Gaspard Kerner, Le Thi Ton, Nguyễn Trong Luong, Nguyễn Thanh Danh, Quentin B Vincent, Fabienne Jabot-Hanin, Yoann Seeleuthner, Jacinta Bustamante, Stéphanie Boisson-Dupuis, Nguyen Thu Huong, Nguyen Ngoc Ba, Jean-Laurent Casanova, Christophe Delacourt, Eileen G Hoal, Alexandre Alcaïs, Vu Hong Thai, Lai The Thành, Laurent Abel, Erwin Schurr, Aurélie Cobat

    Diterbitkan 2021-03-01
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  4. 4
    Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function

    Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function oleh Mathilda Bedin, Olivia Boyer, Aude Servais, Yong Li, Laure Villoing-Gaudé, Marie-Josephe Tête, Alexandra Cambier, Julien Hogan, Veronique Baudouin, Saoussen Krid, Albert Bensman, Florie Lammens, Ferielle Louillet, Bruno Ranchin, Cecile Vigneau, Iseline Bouteau, Corinne Isnard-Bagnis, Christoph J. Mache, Tobias Schäfer, Lars Pape, Markus Gödel, Tobias B. Huber, Marcus Benz, Günter Klaus, Matthias Hansen, Kay Latta, Olivier Gribouval, Vincent Morinière, Carole Tournant, Maik Grohmann, Elisa Kuhn, Timo Wagner, Christine Bole-Feysot, Fabienne Jabot-Hanin, Patrick Nitschké, Tarunveer S. Ahluwalia, Anna Köttgen, Christian Brix Folsted Andersen, Carsten Bergmann, Corinne Antignac, Matias Simons

    Diterbitkan 2022-06-01
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