检索结果 - Séverine Audebert‐Bellanger

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  1. 1
    Inherited human Apollo deficiency causes severe bone marrow failure and developmental defects

    Inherited human Apollo deficiency causes severe bone marrow failure and developmental defects 由 Laëtitia Kermasson, Dmitri Churikov, Aya Awad, Riham Smoom, Élodie Lainey, Fabien Touzot, Séverine Audebert‐Bellanger, Sophie Haro, Lauréline Roger, Emília Costa, Maload Mouf, Adriana Bottero, Matías Oleastro, Chrystelle Abdo, Jean‐Pierre de Villartay, Vincent Géli, Yehuda Tzfati, Isabelle Callebaut, Silvia Danielian, Gabriela Soares, Caroline Kannengiesser, Patrick Revy

    出版 2022
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  2. 2
    Mutations of the Imprinted<i>CDKN1C</i>Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization

    Mutations of the Imprinted<i>CDKN1C</i>Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization 由 Frédéric Brioude, Irène Netchine, Françoise Praz, Marilyne Le Jule, Claire Calmel, Didier Lacombe, Patrick Edery, Martin Catala, Sylvie Odent, Bertrand Isidor, Stanislas Lyonnet, Sabine Sigaudy, Bruno Leheup, Séverine Audebert‐Bellanger, Lydie Bürglen, Fabienne Giuliano, Jean‐Luc Alessandri, Valérie Cormier‐Daire, Fanny Laffargue, Sophie Blesson, Isabelle Coupier, James Lespinasse, Patricia Blanchet, Odile Boute, Clarisse Baumann, Michel Polak, Bérénice Doray, Alain Verloès, Géraldine Viot, Yves Le Bouc, Sylvie Rossignol

    出版 2015
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  3. 3
    Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities

    Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities 由 Médéric Jeanne, Hélène Demory, Aubin Moutal, Marie‐Laure Vuillaume, Sophie Blesson, Rose‐Anne Thépault, Sylviane Marouillat, Judith Halewa, Saskia M. Maas, M. Mahdi Motazacker, Grazia M.S. Mancini, Marjon A. van Slegtenhorst, Avgi Andreou, Helene Cox, Julie A. Vogt, Jason Laufman, Natella Kostandyan, Davit Babikyan, Miroslava Hančárová, Šárka Bendová, Zdeněk Sedláček, Kimberly A. Aldinger, Elliott H. Sherr, Emanuela Argilli, Eleina England, Séverine Audebert‐Bellanger, Dominique Bonneau, Estelle Colin, Anne‐Sophie Denommé‐Pichon, Brigitte Gilbert‐Dussardier, Bertrand Isidor, Sébastien Küry, Sylvie Odent, Richard Redon, Rajesh Khanna, William B. Dobyns, Stéphane Bézieau, Jérôme Honnorat, Bernhard Lohkamp, Annick Toutain, Frédéric Laumonnier

    出版 2021
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  4. 4
    Screening Mammography and Breast Cancer: Variation in Risk with Rare Deleterious or Predicted Deleterious Variants in DNA Repair Genes

    Screening Mammography and Breast Cancer: Variation in Risk with Rare Deleterious or Predicted Deleterious Variants in DNA Repair Genes 由 Maximiliano Ribeiro Guerra, Marie‐Gabrielle Dondon, Séverine Eon‐Marchais, Dorothée Le Gal, Juana Beauvallet, Noura Mebirouk, Muriel Belotti, Eve Cavaciuti, Claude Adenis-Lavignasse, Séverine Audebert‐Bellanger, Pascaline Berthet, Valérie Bonadona, Bruno Buecher, Olivier Caron, Mathias Cavaillé, Jean Chiésa, Chrystelle Colas, Isabelle Coupier, Capucine Delnatte, Hélène Dreyfus, Anne Fajac, Sandra Fert‐Ferrer, Jean‐Pierre Fricker, Marion Gauthier‐Villars, Paul Gesta, Sophie Giraud, Laurence Gladieff, Christine Lasset, S. Lejeune-Dumoulin, Jean–Marc Limacher, Michel Longy, Alain Lortholary, Élisabeth Luporsi, Christine M. Maugard, Isabelle Mortemousque, Sophie Nambot, Catherine Noguès, Pascal Pujol, Laurence Venat‐Bouvet, Florent Soubrier, Julie Tinat, A. Tardivon, Fabienne Lesueur, Dominique Stoppa‐Lyonnet, Nadine Andrieu

    出版 2025
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  5. 5
    Diagnostic chest X-rays and breast cancer risk among women with a hereditary predisposition to breast cancer unexplained by a BRCA1 or BRCA2 mutation

    Diagnostic chest X-rays and breast cancer risk among women with a hereditary predisposition to breast cancer unexplained by a BRCA1 or BRCA2 mutation 由 Maximiliano Ribeiro Guerra, Juliette Coignard, Séverine Eon‐Marchais, Marie‐Gabrielle Dondon, Dorothée Le Gal, Juana Beauvallet, Noura Mebirouk, Muriel Belotti, Olivier Caron, Marion Gauthier‐Villars, Isabelle Coupier, Bruno Buecher, Alain Lortholary, Jean‐Pierre Fricker, Paul Gesta, Catherine Noguès, Laurence Faivre, Pascaline Berthet, Élisabeth Luporsi, Capucine Delnatte, Valérie Bonadona, Christine M. Maugard, Pascal Pujol, Christine Lasset, Michel Longy, Yves‐Jean Bignon, Claude Adenis-Lavignasse, Laurence Venat‐Bouvet, Hélène Dreyfus, Laurence Gladieff, Isabelle Mortemousque, Séverine Audebert‐Bellanger, Florent Soubrier, Sophie Giraud, S. Lejeune-Dumoulin, Jean–Marc Limacher, Jean Chiésa, Anne Fajac, Anne Floquet, François Eisinger, Julie Tinat, Sandra Fert‐Ferrer, Chrystelle Colas, Thierry Frébourg, Francesca Damiola, Laure Barjhoux, Eve Cavaciuti, Sylvie Mazoyer, A. Tardivon, Fabienne Lesueur, Dominique Stoppa‐Lyonnet, Nadine Andrieu

    出版 2021
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  6. 6
    Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing

    Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing 由 Elodie Girard, Séverine Eon‐Marchais, Robert Olaso, Anne‐Laure Renault, Francesca Damiola, Marie‐Gabrielle Dondon, Laure Barjhoux, Didier Goidin, Vincent Meyer, Dorothée Le Gal, Juana Beauvallet, Noura Mebirouk, Christine Lonjou, Juliette Coignard, Morgane Marcou, Eve Cavaciuti, Céline Baulard, Marie‐Thérèse Bihoreau, Odile Cohen‐Haguenauer, Dominique Leroux, Clotilde Penet, Sandra Fert‐Ferrer, Chrystelle Colas, Thierry Frébourg, François Eisinger, Claude Adenis, Anne Fajac, Laurence Gladieff, Julie Tinat, Anne Floquet, Jean Chiésa, Sophie Giraud, Isabelle Mortemousque, Florent Soubrier, Séverine Audebert‐Bellanger, Jean‐marc Limacher, Christine Lasset, S. Lejeune-Dumoulin, Hélène Dreyfus, Yves‐Jean Bignon, Michel Longy, Pascal Pujol, Laurence Venat‐Bouvet, Valérie Bonadona, Pascaline Berthet, Élisabeth Luporsi, Christine M. Maugard, Catherine Noguès, Capucine Delnatte, Jean‐Pierre Fricker, Paul Gesta, Laurence Faivre, Alain Lortholary, Bruno Buecher, Olivier Caron, Marion Gauthier‐Villars, Isabelle Coupier, Nicolas Servant, Anne Boland, Sylvie Mazoyer, Jean‐François Deleuze, Dominique Stoppa‐Lyonnet, Nadine Andrieu, Fabienne Lesueur

    出版 2018
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  7. 7
    Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

    Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior 由 Holly K. Harris, Tojo Nakayama, Jenny Lai, Boxun Zhao, Nikoleta Argyrou, Cynthia S. Gubbels, Aubrie Soucy, Casie A. Genetti, Victoria Suslovitch, Lance H. Rodan, George E. Tiller, Gaëtan Lesca, Karen W. Gripp, Reza Asadollahi, Ada Hamosh, Carolyn Applegate, Peter D. Turnpenny, Marleen Simon, Catharina M.L. Volker‐Touw, Koen L.I. van Gassen, Ellen van Binsbergen, Rolph Pfundt, Thatjana Gardeitchik, Bert B.A. de Vries, LaDonna Immken, Catherine A. Buchanan, Marcia Willing, Tomi L. Toler, Emily Fassi, Laura Baker, Fleur Vansenne, Xiaodong Wang, Julian L. Ambrus, Madeleine Fannemel, Jennifer E. Posey, Emanuele Agolini, Antonio Novelli, Anita Rauch, Paranchai Boonsawat, Christina Fagerberg, Martin J. Larsen, Maria Kibæk, Audrey Labalme, Alice Poisson, Katelyn Payne, Laurence E. Walsh, Kimberly A. Aldinger, Jorune Balciuniene, Cara Skraban, Christopher Gray, Jill R. Murrell, Caleb Bupp, Giulia Pascolini, Paola Grammatico, Martin Broly, Sébastien Küry, Mathilde Nizon, Iqra Ghulam Rasool, Muhammad Yasir Zahoor, Cornelia Kraus, André Reis, Muhammad Aamir Iqbal, Kévin Uguen, Séverine Audebert‐Bellanger, Claude Férec, Sylvia Redon, Janice Baker, Yunhong Wu, Guiseppe Zampino, Steffan Syrbe, Ines Brösse, Rami Abou Jamra, William B. Dobyns, Lilian Cohen, Anne Blomhoff, Cyril Mignot, Boris Keren, Thomas Courtin, Pankaj B. Agrawal, Alan H. Beggs, Timothy W. Yu

    出版 2021
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  8. 8
    Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders

    Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders 由 Thomas Husson, François Lecoquierre, Gaël Nicolas, Anne‐Claire Richard, Alexandra Afenjar, Séverine Audebert‐Bellanger, Catherine Badens, Frédéric Bilan, Varoona Bizaoui, Anne Boland, Marie‐Noëlle Bonnet‐Dupeyron, Elise Brischoux‐Boucher, Céline Bonnet, Marie Bournez, Odile Boute, Perrine Brunelle, Roseline Caumes, Perrine Charles, Nicolas Chassaing, Nicolas Chatron, Benjamin Cogné, Estelle Colin, Valérie Cormier‐Daire, Rodolphe Dard, Benjamin Dauriat, Julian Delanne, Jean‐François Deleuze, Florence Démurger, Anne‐Sophie Denommé‐Pichon, Christel Depienne, Anne Dieux, Christèle Dubourg, Patrick Edery, Salima El Chehadeh, Laurence Faivre, Patricia Fergelot, Mélanie Fradin, Aurore Garde, David Geneviève, Brigitte Gilbert‐Dussardier, Cyril Goizet, Alice Goldenberg, Evan Gouy, Anne‐Marie Guerrot, Anne Guimier, Inès Harzalla, Delphine Héron, Bertrand Isidor, Didier Lacombe, Xavier Le Guillou Horn, Boris Keren, Alma Kuechler, Elodie Lacaze, Alinoë Lavillaureix, Daphné Lehalle, Gaëtan Lesca, James Lespinasse, Jonathan Lévy, Stanislas Lyonnet, Godeliève Morel, Nolwenn Jean‐Marçais, Sandrine Marlin, Luisa Marsili, Cyril Mignot, Sophie Nambot, Mathilde Nizon, Robert Olaso, Laurent Pasquier, Laurine Perrin, Florence Petit, Véronique Pingault, Amélie Piton, Fabienne Prieur, Audrey Putoux, Marc Planes, Sylvie Odent, Chloé Quēlin, Sylvia Redon, Mélanie Rama, Marlène Rio, Massimiliano Rossi, Élise Schaefer, Sophie Rondeau, Pascale Saugier‐Veber, Thomas Smol, Sabine Sigaudy, Renaud Touraine, Frédéric Tran Mau‐Them, Aurélien Trimouille, Julien Van‐Gils, Clémence Vanlerberghe, Valérie Vantalon, Gabriella Vera, Marie Vincent, Alban Ziegler, Olivier Guillin, Dominique Campion, Camille Charbonnier

    出版 2023
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