Search Results - Mathilde Nizon

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  1. 1
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    Prenatal Diagnosis of Myhre Syndrome in Two Cases: Further Delineation of the Cardiac and External Phenotype Autoría: Jeanne Jury, Madeleine Joubert, Claudine Le Vaillant, Leïla Ghesh, Pierre‐Emmanuel Séguéla, Ange‐Line Bruel, Benjamin Cogné, Mathilde Nizon

    Published 2024
    Fuente: Wiley Open Access
    Tipo de material: Artículo Open Access
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  2. 2
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    SUFU Loss‐of‐Function Heterozygous Variants Cause a Distinct Neurodevelopmental Delay With Simultaneous Effects on Brain Size Autoría: Ludovico Graziani, Chiara Minotti, Miriam Lucia Carriero, Lorena Travaglini, Mathilde Nizon, Hilde Van Esch, Julie Vogt, Nick Drinkall, Joanna Jarvis, Emanuele Agolini, Mario Bengala, Alessandro Mussa, Antonio Novelli, Giuseppe Novelli

    Published 2026
    Fuente: Wiley Open Access
    Tipo de material: Artículo Open Access
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    Lessons from two series by physicians and caregivers' self‐reported data in DDX3X‐related disorders Autoría: Valentin Ruault, Pauline Burger, Johanna Gradels‐Hauguel, Nathalie Ruiz, Rami Abou Jamra, Alexandra Afenjar, Yves Alembik, Jean‐Luc Alessandri, Stéphanie Arpin, Giulia Barcia, Šárka Bendová, Ange‐Line Bruel, Perrine Charles, Nicolas Chatron, Maya Chopra, Solène Conrad, Valérie Cormier Daire, Auriane Cospain, Christine Coubes, Juliette Coursimault, Andrée Delahaye‐Duriez, Martine Doco, William Dufour, Benjamin Durand, Camille Engel, Laurence Faivre, Fanny Ferroul, Mélanie Fradin, Hélène Frenkiel, Carlo Fusco, Livia Garavelli, Aurore Garde, Bénédicte Gerard, David Germanaud, Louise Goujon, Aurélie Gouronc, Emmanuelle Ginglinger, Alice Goldenberg, Miroslava Hancarova, Markéta Havlovicová, Delphine Heron, Bertrand Isidor, Nolwenn Jean Marçais, Boris Keren, Margarete Koch‐Hogrebe, Paul Kuentz, Victoria Lamure, Anne‐Sophie Lebre, François Lecoquierre, Natacha Lehman, Gaetan Lesca, Stanislas Lyonnet, Delphine Martin, Cyril Mignot, Teresa M. Neuhann, Gaël Nicolas, Mathilde Nizon, Florence Petit, Christophe Philippe, Amélie Piton, Marzia Pollazzon, Darina Prchalová, Audrey Putoux, Marlène Rio, Sophie Rondeau, Massimiliano Rossi, Quentin Sabbagh, Pascale Saugier‐Veber, Ariane Schmetz, Julie Steffann, Christel Thauvin‐Robinet, Annick Toutain, Frederic Tran Mau Them, Gabriele Trimarchi, Marie Vincent, Markéta Vlčková, Dagmar Wieczorek, Marjolaine Willems, Kevin Yauy, Michaela Zelinová, Alban Ziegler, Boris Chaumette, Bekim Sadikovic, Jean‐Louis Mandel, David Geneviève

    Published 2024
    Fuente: Wiley Open Access
    Tipo de material: Artículo Open Access
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