نتائج البحث - Catherine Blanchet

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  1. 1
    Whole<i>USH2A</i>Gene Sequencing Identifies Several New Deep Intronic Mutations

    Whole<i>USH2A</i>Gene Sequencing Identifies Several New Deep Intronic Mutations حسب Alessandro Liquori, Christel Vaché, David Baux, Catherine Blanchet, Christian Hamel, Sue Malcolm, M. Kœnig, Mireille Claustres, Anne‐Françoise Roux

    منشور في 2015
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  2. 2
    Enrichment of LOVD-USHbases with 152<i>USH2A</i>Genotypes Defines an Extensive Mutational Spectrum and Highlights Missense Hotspots

    Enrichment of LOVD-USHbases with 152<i>USH2A</i>Genotypes Defines an Extensive Mutational Spectrum and Highlights Missense Hotspots حسب David Baux, Catherine Blanchet, Christian Hamel, Isabelle Meunier, Lise Larrieu, Valérie Faugère, Christel Vaché, Pierangela Castorina, Bernard Puech, Dominique Bonneau, Sue Malcolm, Mireille Claustres, Anne‐Françoise Roux

    منشور في 2014
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  3. 3
    Non-USH2A mutations in USH2 patients

    Non-USH2A mutations in USH2 patients حسب Thomas Besnard, Christel Vaché, David Baux, Lise Larrieu, Caroline Abadie, Catherine Blanchet, Sylvie Odent, Patricia Blanchet, Patrick Calvas, Christian Hamel, Hélène Dollfus, Geneviève Lina‐Granade, James Lespinasse, Albert David, Bertrand Isidor, G Morin, Sue Malcolm, Sylvie Tuffery‐Giraud, Mireille Claustres, Anne‐Françoise Roux

    منشور في 2011
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  4. 4
    SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect

    SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect حسب Alisdair McNeill, Emanuela Iovino, Luke Mansard, Christel Vaché, David Baux, Emma Bedoukian, Helen Cox, John Dean, David Goudie, Ajith Kumar, Ruth Newbury‐Ecob, Chiara Fallerini, Alessandra Renieri, Diego Lopergolo, Francesca Mari, Catherine Blanchet, Marjolaine Willems, Anne‐Françoise Roux, Tommaso Pippucci, Eric Delpire

    منشور في 2020
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  5. 5
    POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4

    POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4 حسب Elodie Sanchez, Béryl Laplace-Builhé, Frédéric Tran Mau‐Them, Eric Richard, Alice Goldenberg, Tomi L. Toler, Thomas Guignard, Vincent Gâtinois, Marie Vincent, Catherine Blanchet, Anne Boland, Marie Thérèse Bihoreau, Jean‐François Deleuze, Robert Olaso, Walton Nephi, Hermann‐Josef Lüdecke, Joanne Verheij, Florence Moreau-Lenoir, Françoise Denoyelle, Jean‐Baptiste Rivière, Jean Laplanche, Marcia Willing, Guillaume Captier, Florence Apparailly, Dagmar Wieczorek, Corinne Collet, Farida Djouad, David Geneviève

    منشور في 2019
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  6. 6
    Treacher Collins syndrome: a clinical and molecular study based on a large series of patients

    Treacher Collins syndrome: a clinical and molecular study based on a large series of patients حسب Marie Vincent, David Geneviève, Agnès Ostertag, Sandrine Marlin, Didier Lacombe, Dominique Martin–Coignard, Christine Coubes, Albert David, Stanislas Lyonnet, Catheline Vilain, Anne Dieux‐Coëslier, Sylvie Manouvrier, Bertrand Isidor, Marie‐Line Jacquemont, Sophie Julia, Valérie Layet, Sophie Naudion, Sylvie Odent, Laurent Pasquier, Sybille Pelras, Nicole Philip, Geneviève Pierquin, Fabienne Prieur, Nisrine Aboussair, Tania Attié‐Bitach, Geneviève Baujat, Patricia Blanchet, Catherine Blanchet, Hélène Dollfus, Bérénice Doray, Élise Schaefer, Patrick Edery, Fabienne Giuliano, Alice Goldenberg, Cyril Goizet, Agnès Guichet, Christian Herlin, Laëtitia Lambert, Bruno Leheup, Jéléna Martinovic, Sandra Mercier, Cyril Mignot, Marie‐Laure Moutard, M. Laguía Pérez, Lucile Pinson, Jacques Puechberty, Marjolaine Willems, Hanitra Randrianaivo, Kateline Szaskon, Annick Toutain, Alain Verloès, Jacqueline Vigneron, Elodie Sanchez, Pierre Sarda, Jean Laplanche, Corinne Collet

    منشور في 2015
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  7. 7
    <i>KMT2B</i>-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation

    <i>KMT2B</i>-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation حسب Laura Cif, Diane Demailly, Jean‐Pierre Lin, Katy Barwick, Mario Sa, Lucia Abela, Sony Malhotra, W.K. Chong, Dora Steel, Alba Sanchis-Juan, Adeline Ngoh, Natalie Trump, Esther Meyer, Xavier Vasques, Julia Rankin, Meredith W Allain, Carolyn Applegate, Sanaz Attaripour Isfahani, Julien Baleine, Bettina Balint, Jennifer A. Bassetti, Emma L. Baple, Kailash P. Bhatia, Catherine Blanchet, Lydie Bürglen, Gilles Cambonie, Emilie Chan Seng, Sandra Chantot‐Bastaraud, Fabienne Cyprien, Christine Coubes, Vincent d’Hardemare, Asif Doja, Nathalie Dorison, Diane Doummar, Marisela Dy-Hollins, Ellyn Farrelly, David Fitzpatrick, Conor Fearon, Elizabeth L. Fieg, Brent L. Fogel, Eva Forman, Rachel Fox, William A. Gahl, Serena Galosi, Victoria González, Tracey D. Graves, Allison Gregory, Mark Hallett, Harutomo Hasegawa, Susan J. Hayflick, Ada Hamosh, Marie Hully, Sandra Jansen, Suh Young Jeong, Joel B. Krier, Sidney Krystal, Kishore R. Kumar, Chloé Laurencin, Hane Lee, Gaëtan Lesca, Laurence Lion François, Timothy Lynch, Neil Mahant, Julián A. Martínez-Agosto, Christophe Milési, Kelly A. Mills, M. Mondain, Hugo Morales‐Briceño, John R. Østergaard, Swasti Pal, J. Carl Pallais, Frédérique Pavillard, Pierre-Francois Perrigault, Andrea Petersen, Gustavo Polo, Gaëtan Poulen, Tuula Rinne, Thomas Roujeau, Caleb Rogers, Agathe Roubertie, Michelle Sahagian, Élise Schaefer, Laila Selim, Richard Selway, Nutan Sharma, Rebecca Signer, Ariane Soldatos, David A. Stevenson, Fiona Stewart, Michel Tchan, Ishwar C. Verma, Bert B A de Vries, Jenny L. Wilson, Derek A. Wong, Raghda Mohamed Hesham Zaitoun, Dolly Zhen, Anna Znaczko, Russell C. Dale, Claudio M. de Gusmão, Jennifer Friedman

    منشور في 2020
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