Arama Sonuçları - Solveig Heide

Two new cases of interstitial 7q35q36.1 deletion including CNTNAP2 and KMT2C Yazar: Lucie Tosca, Loïc Drévillon, Aurélie Mouka, Laure Lecerf, Audrey Briand, Valérie Ortonne, Virginie Benoit, Sophie Brisset, Lionel Van Maldergem, Quitterie Laudouar, Solveig Heide, Michel Goossens, Irina Giurgea, Gérard Tachdjian, Corinne Métay

Tam Metin Erişim

PAK3 mutations responsible for severe intellectual disability and callosal agenesis inhibit cell migration Yazar: 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

Tam Metin Erişim

Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity Yazar: Laure Asselin, José Rivera Alvarez, Solveig Heide, Camille S. Bonnet, Peggy Tilly, Hélène Vitet, Chantal Weber, Carlos A. Bacino, Kristin Baranaño, Anna Chassevent, Amy Dameron, Laurence Faivre, Neil A. Hanchard, Sonal Mahida, Kirsty McWalter, Cyril Mignot, Caroline Nava, Agnès Rastetter, Haley Streff, Christel Thauvin-Robinet, Marjan M. Weiss, Gladys Zapata, Petra J. G. Zwijnenburg, Frédéric Saudou, Christel Depienne, Christelle Golzio, Delphine Héron, Juliette D. Godin

Tam Metin Erişim

OMIXCARE: OMICS technologies solved about 33% of the patients with heterogeneous rare neuro-developmental disorders and negative exome sequencing results and identified 13% additio... Yazar: 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

Tam Metin Erişim

Evaluation of the contribution of trio-exome sequencing in selected prenatal indications Yazar: Manon Chretien, Julien Osouf, Carine Abel, Alexandra Afenjar, Tania Attie-Bitach, Elise Brischoux-Boucher, Lydie Burglen, Nadège Calmels, Nicolas Chassaing, Thomas Courtin, Julian Delanne, Martine Doco-Fenzy, Martine Doco-Fenzy, Christèle Dubourg, Benjamin Durand, Salima El Chehadeh, Laurence Faivre, Aurore Garde, Emmanuelle Ginglinger, Virginie Haushalter, Damien Haye, Solveig Heide, Laurence Heidet, Laurence Heidet, Delphine Heron, Clémence Jacquin, Laetitia Lambert, Laetitia Lambert, Jean-Baptiste Lamouche, Vincent Laugel, Antony Le Bechec, Daphné Lehalle, Laurence Michel-Calemard, Edgar Montoya Ramirez, Jean Muller, Jean Muller, Jean Muller, Sylvie Odent, Olivier Patat, Juliette Piard, Juliette Piard, Céline Poirsier, Audrey Putoux, Chloé Quelin, Caroline Racine, Caroline Racine, Nicolas Sananes, Nicolas Sananes, Audrey Schalk, Sophie Scheidecker, Sophie Scheidecker, Christel Thauvin-Robinet, Christel Thauvin-Robinet, Stéphanie Valence, Anne-Sophie Weingertner, Anne-Sophie Weingertner, Justine Wourms, Hélène Dollfus, Hélène Dollfus, Bénédicte Gerard, Caroline Schluth-Bolard, Caroline Schluth-Bolard, Elise Schaefer, Elise Schaefer

Tam Metin Erişim

Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study Yazar: 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

Tam Metin Erişim