Hasil Pencarian - Isabelle Gourlaouen

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  1. 1
    Phenotypic and functional data confirm causality of the recently identified hemojuvelin p.r176c missense mutation

    Phenotypic and functional data confirm causality of the recently identified hemojuvelin p.r176c missense mutation oleh Chandran Ka, Gérald Le Gac, Emilie Letocart, Isabelle Gourlaouen, Brigitte Martin, Claude Férec

    Diterbitkan 2007-09-01
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  2. 2
    Homozygous deletion of HFE is the common cause of hemochromatosis in Sardinia

    Homozygous deletion of HFE is the common cause of hemochromatosis in Sardinia oleh Gérald Le Gac, Rita Congiu, Isabelle Gourlaouen, Milena Cau, Claude Férec, Maria Antonietta Melis

    Diterbitkan 2010-04-01
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  3. 3
    HFE-Related Hemochromatosis: The Haptoglobin 2-2 Type Has a Significant but Limited Influence on Phenotypic Expression of the Predominant p.C282Y Homozygous Genotype

    HFE-Related Hemochromatosis: The Haptoglobin 2-2 Type Has a Significant but Limited Influence on Phenotypic Expression of the Predominant p.C282Y Homozygous Genotype oleh Gérald Le Gac, Chandran Ka, Isabelle Gourlaouen, Laurence Bryckaert, Anne-Yvonne Mercier, Brigitte Chanu, Virginie Scotet, Claude Férec

    Diterbitkan 2009-01-01
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  4. 4
    The dual loss and gain of function of the FPN1 iron exporter results in the ferroportin disease phenotype

    The dual loss and gain of function of the FPN1 iron exporter results in the ferroportin disease phenotype oleh Kevin Uguen, Marlène Le Tertre, Dimitri Tchernitchko, Ahmad Elbahnsi, Sandrine Maestri, Isabelle Gourlaouen, Claude Férec, Chandran Ka, Isabelle Callebaut, Gérald Le Gac

    Diterbitkan 2024-10-01
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  5. 5
    A novel hypomorphic splice variant in EIF2B5 gene is associated with mild ovarioleukodystrophy

    A novel hypomorphic splice variant in EIF2B5 gene is associated with mild ovarioleukodystrophy oleh Agustí Rodríguez‐Palmero, Agatha Schlüter, Edgard Verdura, Montserrat Ruiz, Juan José Martínez, Isabelle Gourlaouen, Chandran Ka, Ricardo Lobato, Carlos Casasnovas, Gérald Le Gac, Stéphane Fourcade, Aurora Pujol

    Diterbitkan 2020-09-01
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  6. 6
    Evidence for the high importance of co-morbid factors in HFE C282Y/H63D patients cared by phlebotomies: results from an observational prospective study.

    Evidence for the high importance of co-morbid factors in HFE C282Y/H63D patients cared by phlebotomies: results from an observational prospective study. oleh Philippe Saliou, Gérald Le Gac, Anne-Yvonne Mercier, Brigitte Chanu, Paul Guéguen, Marie-Christine Mérour, Isabelle Gourlaouen, Sandrine Autret, Cédric Le Maréchal, Karen Rouault, Jean-Baptiste Nousbaum, Claude Férec, Virginie Scotet

    Diterbitkan 2013-01-01
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  7. 7
    The SLC40A1 R178Q mutation is a recurrent cause of hemochromatosis and is associated with a novel pathogenic mechanism

    The SLC40A1 R178Q mutation is a recurrent cause of hemochromatosis and is associated with a novel pathogenic mechanism oleh Chandran Ka, Julie Guellec, Xavier Pepermans, Caroline Kannengiesser, Cécile Ged, Wim Wuyts, David Cassiman, Victor de Ledinghen, Bruno Varet, Caroline de Kerguenec, Claire Oudin, Isabelle Gourlaouen, Thibaud Lefebvre, Claude Férec, Isabelle Callebaut, Gérald Le Gac

    Diterbitkan 2018-11-01
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