Search Results - Solveig Heide
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PAK3 mutations responsible for severe intellectual disability and callosal agenesis inhibit cell migration by Kévin Duarte, Solveig Heide, Sandrine Poëa-Guyon, Véronique Rousseau, Christel Depienne, Agnès Rastetter, Caroline Nava, Tania Attié-Bitach, Ferechté Razavi, Jelena Martinovic, Marie Laure Moutard, Jacqueline Cherfils, Cyril Mignot, Delphine Héron, Jean-Vianney Barnier
Published in Neurobiology of Disease (2020-03-01)Get full text
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OMIXCARE: OMICS technologies solved about 33% of the patients with heterogeneous rare neuro-developmental disorders and negative exome sequencing results and identified 13% additio... by Estelle Colin, Estelle Colin, Yannis Duffourd, Yannis Duffourd, Emilie Tisserant, Raissa Relator, Ange-Line Bruel, Ange-Line Bruel, Frédéric Tran Mau-Them, Frédéric Tran Mau-Them, Anne-Sophie Denommé-Pichon, Anne-Sophie Denommé-Pichon, Hana Safraou, Hana Safraou, Julian Delanne, Julian Delanne, Nolwenn Jean-Marçais, Boris Keren, Bertrand Isidor, Marie Vincent, Cyril Mignot, Cyril Mignot, Delphine Heron, Alexandra Afenjar, Solveig Heide, Anne Faudet, Perrine Charles, Sylvie Odent, Sylvie Odent, Yvan Herenger, Arthur Sorlin, Sébastien Moutton, Jennifer Kerkhof, Haley McConkey, Martin Chevarin, Martin Chevarin, Charlotte Poë, Charlotte Poë, Victor Couturier, Victor Couturier, Valentin Bourgeois, Valentin Bourgeois, Patrick Callier, Anne Boland, Robert Olaso, Robert Olaso, Christophe Philippe, Christophe Philippe, Bekim Sadikovic, Bekim Sadikovic, Christel Thauvin-Robinet, Christel Thauvin-Robinet, Christel Thauvin-Robinet, Laurence Faivre, Laurence Faivre, Jean-François Deleuze, Jean-François Deleuze, Antonio Vitobello, Antonio Vitobello
Published in Frontiers in Cell and Developmental Biology (2022-10-01)Get full text
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Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study by Salima El Chehadeh, Solveig Heide, Chloé Quélin, Marlène Rio, Henri Margot, David Geneviève, Bertrand Isidor, Alice Goldenberg, Caroline Guégan, Gaëtan Lesca, Marjolaine Willems, Clothilde Ormières, Roseline Caumes, Tiffany Busa, Dominique Bonneau, Anne-Marie Guerrot, Isabelle Marey, Gabriella Vera, Pauline Marzin, Anaïs Philippe, Aurore Garde, Christine Coubes, Marie Vincent, Vincent Michaud, Cyril Mignot, Perrine Charles, Sabine Sigaudy, Patrick Edery, Didier Lacombe, Anne Boland, Frédérique Nowak, Marion Bouctot, Marie-Laure Humbert-Asensio, Alban Simon, Kirsley Chennen, Niki Sabour, Christelle Delmas, Gaël Nicolas, Pascale Saugier-Veber, François Lecoquierre, Kévin Cassinari, Boris Keren, Thomas Courtin, Jean-Madeleine De Sainte Agathe, Valérie Malan, Giulia Barcia, Frédéric Tran Mau-Them, Hana Safraou, Christophe Philippe, Julien Thévenon, Nicolas Chatron, Louis Januel, Amélie Piton, Virginie Haushalter, Bénédicte Gérard, Catherine Lejeune, Laurence Faivre, Damien Sanlaville, Delphine Héron, Sylvie Odent, Patrick Nitschké, Caroline Schluth-Bolard, Stanislas Lyonnet, Jean-François Deleuze, Christine Binquet, Hélène Dollfus, DEFIDIAG study group
Published in Genome Medicine (2025-10-01)Get full text
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