檢索結果 - Françoise Denoyelle
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Evaluation of Cytomegalovirus (CMV) DNA Quantification in Dried Blood Spots: Retrospective Study of CMV Congenital Infection 由 Christelle Vauloup‐Fellous, Aurélie Ducroux, V. Couloigner, Sandrine Marlin, Olivier Picone, Julie Galimand, Natalie Loundon, Françoise Denoyelle, L. Grangeot‐Keros, Marianne Leruez‐Ville
出版 2007Artigo -
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An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature 由 Justine Lerat, Laurence Jonard, Natalie Loundon, Sophie Christin‐Maître, Didier Lacombe, Cyril Goizet, Cécile Rouzier, Lionel Van Maldergem, Souad Gherbi, Éréa-Noël Garabédian, Jean‐Paul Bonnefont, Philippe Touraine, Isabelle Mösnier, Arnold Münnich, Françoise Denoyelle, Sandrine Marlin
出版 2016Revisão -
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Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chip 由 M. Lévêque, Sandrine Marlin, Laurence Jonard, Vincent Procaccio, Pascal Reynier, Patrizia Amati‐Bonneau, Sylvain Baulande, Denis Pierron, Didier Lacombe, F Duriez, Christine Francannet, T. Mom, Hubert Journel, Hélène Catros, Valérie Drouin‐Garraud, Marie-Françoise Obstoy, Hélène Dollfus, Marie‐Madeleine Eliot, Laurence Faivre, C. Duvillard, Rémy Couderc, Éréa-Noël Garabédian, Christine Petit, Delphine Feldmann, Françoise Denoyelle
出版 2007Artigo -
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SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations 由 Sébastien Albert, Hélène Blons, Laurence Jonard, Delphine Feldmann, Pierre Chauvin, N. Loundon, Annie Sergent-Allaoui, Muriel Houang, Alain Joannard, S. Schmerber, Bruno Delobel, Jacques Leman, Hubert Journel, Hélène Catros, Hélène Dollfus, Marie-Madeleine Eliot, Albert David, C. Calais, Valérie Drouin‐Garraud, Marie-Françoise Obstoy, Patrice Tran Ba Huy, Didier Lacombe, F Duriez, Christine Francannet, Pierre Bitoun, Christine Petit, Éréa-Noël Garabédian, Rémy Couderc, Sandrine Marlin, Françoise Denoyelle
出版 2006Artigo -
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POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4 由 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
出版 2019Artigo -
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Prelingual Deafness: High Prevalence of a 30delG Mutation in the Connexin 26 Gene 由 Françoise Denoyelle, Dominique Weil, Marion A. Maw, S.A. Wilcox, Nicholas Lench, D. R. Allen-Powell, Amelia H. Osborn, H Dahl, Anna Middleton, Mark Houseman, Catherine Dodé, Sandrine Marlin, Amel Boulila‐Elgaied, M’hamed Grati, Hammadi Ayadi, S. Benarab, Pierre Bitoun, Geneviève Lina‐Granade, Jacqueline Godet, Mirna Mustapha, Jacques Loiselet, Elie El‐Zir, Anne Aubois, A Joannard, Jacqueline Levilliers, E.N. Garabédian, R F Mueller, R. J McKinlay Gardner, Christine Petit
出版 1997Artigo -
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Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis 由 Crystel Bonnet, M’hamed Grati, Sandrine Marlin, Jacqueline Levilliers, Jean-Pierre Hardelin, M. Parodi, Magali Niasme-Grare, Diana Zélénika, Marc Delépine, Delphine Feldmann, Laurence Jonard, A. Amraoui, Dominique Weil, Bruno Delobel, C. Vincent, Hélène Dollfus, Marie-Madeleine Eliot, Albert David, C. Calais, Jacqueline Vigneron, B. Montaut-Verient, Dominique Bonneau, Jacques Dubin, Christel Thauvin, Alain Duvillard, Christine Francannet, T. Mom, Didier Lacombe, F Duriez, Valérie Drouin‐Garraud, Marie-Françoise Thuillier-Obstoy, Sabine Sigaudy, Anne-Marie Frances, Patrick Collignon, Georges Challe, Rémy Couderc, Mark Lathrop, José‐Alain Sahel, Jean Weissenbach, Christine Petit, Françoise Denoyelle
出版 2011Artigo -
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Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome 由 Christopher T. Gordon, Alice Vuillot, Sandrine Marlin, Erica H. Gerkes, Alex Henderson, Adila Al‐Kindy, Muriel Holder‐Espinasse, Sarah Park, Asma Omarjee, Mateo Sanchis-Borja, Eya Ben Bdira, Myriam Oufadem, Birgit Sikkema‐Raddatz, A. Stewart, Rodger Palmer, Ruth McGowan, Florence Petit, Bruno Delobel, Michael R. Speicher, Paul Aurora, David Kilner, P. Pellerin, Marie Simon, Jean‐Paul Bonnefont, Edward S. Tobias, Sixto García‐Miñaúr, Maria Bitner‐Glindzicz, Pernille Lindholm, Brigitte A. Meijer, Véronique Abadie, Françoise Denoyelle, Marie-Paule Vazquez, C Rotky-Fast, V. Couloigner, S. Pierrot, Y Manac'h, Sylvain Breton, Yvonne Hendriks, Arnold Münnich, Linda P. Jakobsen, Peter M. Kroisel, Angela E. Lin, Leonard B. Kaban, Lina Basel‐Vanagaite, Louise C. Wilson, Michael L. Cunningham, Stanislas Lyonnet, Jeanne Amiel
出版 2013Artigo -
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GJB2 Mutations and Degree of Hearing Loss: A Multicenter Study 由 Rikkert L. Snoeckx, P.L.M. Huygen, Delphine Feldmann, Sandrine Marlin, Françoise Denoyelle, J Waligora, Małgorzata Mueller‐Malesińska, Agnieszka Pollak, Rafał Płoski, Alessandra Murgia, Eva Orzan, Pierangela Castorina, Umberto Ambrosetti, Ewa Nowakowska-Szyrwińska, Jerzy Bal, Wojciech Wiszniewski, Andreas Janecke, Doris Nekahm-Heis, Pavel Seeman, O. Bendová, Margaret A. Kenna, Anna Frangulov, Heidi L. Rehm, Mustafa Tekin, Armağan İncesulu, Hans‐Henrik M. Dahl, Desirée du Sart, Lucy Jenkins, Deirdre Lucas, Maria Bitner‐Glindzicz, Karen B. Avraham, Zippora Brownstein, Ignacio del Castillo, Felipe Moreno, Nikolaus Blin, Markus Pfister, István Sziklai, Tímea Tóth, Philip M. Kelley, Edward Cohn, Lionel Van Maldergem, Pascale Hilbert, Anne‐Françoise Roux, M. Mondain, Lies H. Hoefsloot, Cor W. R. J. Cremers, Tuija Löppönen, Heikki Löppönen, Agnete Parving, Karen Grønskov, Iris Schrijver, Joseph Roberson, Francesca Gualandi, Alessandro Martini, Geneviève Lina‐Granade, Nathalie Pallares‐Ruiz, Céu Correia, Graça Fialho, Kim Cryns, Nele Hilgert, Paul Van de Heyning, Carla Nishimura, Richard J. Smith, Guy Van Camp
出版 2005Artigo
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