Found: 5

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  • Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 52, doi. 10.1002/ajmg.a.62983
    By:
    • Jouret, Guillaume;
    • Egloff, Matthieu;
    • Landais, Emilie;
    • Tassy, Olivier;
    • Giuliano, Fabienne;
    • Karmous‐Benailly, Houda;
    • Coutton, Charles;
    • Satre, Véronique;
    • Devillard, Françoise;
    • Dieterich, Klaus;
    • Vieville, Gaëlle;
    • Kuentz, Paul;
    • le Caignec, Cédric;
    • Beneteau, Claire;
    • Isidor, Bertrand;
    • Nizon, Mathilde;
    • Callier, Patrick;
    • Marquet, Valentine;
    • Bieth, Eric;
    • Lévy, Jonathan
    Publication type:
    Article

  • Compound genetic etiology in a patient with a syndrome including diabetes, intellectual deficiency and distichiasis.

    Published in:
    2022
    By:
    • Le Collen, Lauriane;
    • Delemer, Brigitte;
    • Spodenkiewicz, Marta;
    • Cornillet Lefebvre, Pascale;
    • Durand, Emmanuelle;
    • Vaillant, Emmanuel;
    • Badreddine, Alaa;
    • Derhourhi, Mehdi;
    • Mouhoub, Tarik Ait;
    • Jouret, Guillaume;
    • Juttet, Pauline;
    • Souchon, Pierre François;
    • Vaxillaire, Martine;
    • Froguel, Philippe;
    • Bonnefond, Amélie;
    • Doco Fenzy, Martine
    Publication type:
    journal article

  • Understanding the new BRD4‐related syndrome: Clinical and genomic delineation with an international cohort study.

    Published in:
    Clinical Genetics, 2022, v. 102, n. 2, p. 117, doi. 10.1111/cge.14141
    By:
    • Jouret, Guillaume;
    • Heide, Solveig;
    • Sorlin, Arthur;
    • Faivre, Laurence;
    • Chantot‐Bastaraud, Sandra;
    • Beneteau, Claire;
    • Denis‐Musquer, Marie;
    • Turnpenny, Peter D.;
    • Coutton, Charles;
    • Vieville, Gaëlle;
    • Thevenon, Julien;
    • Larson, Austin;
    • Petit, Florence;
    • Boudry, Elise;
    • Smol, Thomas;
    • Delobel, Bruno;
    • Duban‐Bedu, Bénédicte;
    • Fallerini, Chiara;
    • Mari, Francesca;
    • Lo Rizzo, Caterina
    Publication type:
    Article

  • Clinical Genetics of Prolidase Deficiency: An Updated Review.

    Published in:
    Biology (2079-7737), 2020, v. 9, n. 5, p. 108, doi. 10.3390/biology9050108
    By:
    • Spodenkiewicz, Marta;
    • Spodenkiewicz, Michel;
    • Cleary, Maureen;
    • Massier, Marie;
    • Fitsialos, Giorgos;
    • Cottin, Vincent;
    • Jouret, Guillaume;
    • Poirsier, Céline;
    • Doco-Fenzy, Martine;
    • Lèbre, Anne-Sophie
    Publication type:
    Article

  • Natural history of KBG syndrome in a large European cohort.

    Published in:
    Human Molecular Genetics, 2022, v. 31, n. 24, p. 4131, doi. 10.1093/hmg/ddac167
    By:
    • Loberti, Lorenzo;
    • Bruno, Lucia Pia;
    • Granata, Stefania;
    • Doddato, Gabriella;
    • Resciniti, Sara;
    • Fava, Francesca;
    • Carullo, Michele;
    • Rahikkala, Elisa;
    • Jouret, Guillaume;
    • Menke, Leonie A;
    • Lederer, Damien;
    • Vrielynck, Pascal;
    • Ryba, Lukáš;
    • Brunetti-Pierri, Nicola;
    • Lasa-Aranzasti, Amaia;
    • Cueto-González, Anna Maria;
    • Trujillano, Laura;
    • Valenzuela, Irene;
    • Tizzano, Eduardo F;
    • Spinelli, Alessandro Mauro
    Publication type:
    Article