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  1. 1
    First Prenatal Case of Genotypically and Phenotypically Overlapping Double Molecular Diagnosis of Van den Ende–Gupta and 22q11.2 Deletion Syndromes

    First Prenatal Case of Genotypically and Phenotypically Overlapping Double Molecular Diagnosis of Van den Ende–Gupta and 22q11.2 Deletion Syndromes by Caroline Racine, Aurore Garde, Olivia Martz, Hana Safraou, Vinciane Eluard, Thierry Rousseau, Nathalie Marle, Fara T. Harizay, Laurent Martin, Julien Maraval, Ange‐Line Bruel, Christophe Philippe, Christel Thauvin‐Robinet, Laurence Faivre

    Published 2025-04-01
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  2. 2
    A phase II double-blind multicentre, placebo-controlled trial to assess the efficacy and safety of alpelisib (BYL719) in paediatric and adult patients with Megalencephaly-CApillary malformation Polymicrogyria syndrome (MCAP): the SESAM study protocol

    A phase II double-blind multicentre, placebo-controlled trial to assess the efficacy and safety of alpelisib (BYL719) in paediatric and adult patients with Megalencephaly-CApillary... by Jean-Marc Treluyer, Benedicte Demeer, Laurence Faivre, Marc Bardou, Nathalie Boddaert, Paul Kuentz, Florence Petit, Christine Francannet, Pierre Vabres, Nadia Bahi-Buisson, Estelle Colin, Laurent Guibaud, Romaric Loffroy, Maxime Luu, Caroline Racine, Aurore Garde, Philippe Khau Van Kien, Aurore Curie, Nawale Hadouiri, Aurélie Espitalier, Agnès Maurer, Maud Carpentier, Adélaide Rega, Mouna Chebbi, Julie Charligny, Guillaume Canaud, Camille Fleck, Amelie Cransac, Elise Boucher-Brischoux, Adélaïde Brosseau-Beauvir, Florian Cherik, Alice Phan, Michaela Semeraro, Marion Nys, Charles Joris Roux, Alinoë Lavillaureix, Isabelle Maruani

    Published 2024-12-01
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