SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations
ALBERT, Sébastien, BLONS, Hélène, DELOBEL, Bruno, LEMAN, Jacques, JOURNEL, Hubert, CATROS, Hélène, DOLLFUS, Hélène, ELIOT, Marie-Madeleine, DAVID, Albert, CALAIS, Catherine, DROUIN-GARRAUD, Valérie, OBSTOY, Marie-Francoise, JONARD, Laurence, HUY, Patrice Tran Ba, LACOMBE, Didier, DURIEZ, Francoise, FRANCANNET, Christine, BITOUN, Pierre, PETIT, Christine, GARABEDIAN, Eréa-Noël, COUDERC, Rémy, MARLIN, Sandrine, DENOYELLE, Francoise, FELDMANN, Delphine, CHAUVIN, Pierre, LOUNDON, Nathalie, SERGENT-ALLAOUI, Annie, HOUANG, Muriel, JOANNARD, Alain, SCHMERBER, Sébastien
Published in European journal of human genetics : EJHG (01.06.2006)
Published in European journal of human genetics : EJHG (01.06.2006)
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Clinical evidence of the nonpathogenic nature of the M34T variant in the connexin 26 gene
FELDMANN, Delphine, DENOYELLE, Francoise, JOURNEL, Hubert, CATROS, Hélène, FERREC, Claude, DROUIN-GARRAUD, Valérie, OBSTOY, Marie-Francoise, MOATI, Lucien, PETIT, Christine, MARLIN, Sandrine, LOUNDON, Natalie, WEIL, Dominique, GARABEDIAN, Erea-Noel, COUDERC, Remy, JOANNARD, Alain, SCHMERBER, Sébastien, DELOBEL, Bruno, LEMAN, Jacques
Published in European journal of human genetics : EJHG (01.04.2004)
Published in European journal of human genetics : EJHG (01.04.2004)
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Characterization of a Germline Mosaicism in Families with Lowe Syndrome, and Identification of Seven Novel Mutations in the OCRL1 Gene
Satre, Véronique, Monnier, Nicole, Berthoin, Florence, Ayuso, Carmen, Joannard, Alain, Jouk, Pierre-Simon, Lopez-Pajares, Isidora, Megabarne, André, Philippe, Henri Jean, Plauchu, Henri, Torres, Maria Luisa, Lunardi, Joël
Published in American journal of human genetics (01.07.1999)
Published in American journal of human genetics (01.07.1999)
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GJB2 and GJB6 Mutations: Genotypic and Phenotypic Correlations in a Large Cohort of Hearing-Impaired Patients
Marlin, Sandrine, Feldmann, Delphine, Blons, Hélène, Loundon, Natalie, Rouillon, Isabelle, Albert, Sébastien, Chauvin, Pierre, Garabédian, Eréa-Noël, Couderc, Rémy, Odent, Sylvie, Joannard, Alain, Schmerber, Sébastien, Delobel, Bruno, Leman, Jacques, Journel, Hubert, Catros, Hélène, Lemarechal, Cédric, Dollfus, Hélène, Eliot, Marie-Madeleine, Delaunoy, Jean-Louis, David, Albert, Calais, Catherine, Drouin-Garraud, Valérie, Obstoy, Marie-Françoise, Goizet, Cyril, Duriez, Françoise, Fellmann, Florence, Hélias, Jocelyne, Vigneron, Jacqueline, Montaut, Bettina, Matin-Coignard, Dominique, Faivre, Laurence, Baumann, Clarisse, Lewin, Patricia, Petit, Christine, Denoyelle, Françoise
Published in Archives of otolaryngology--head & neck surgery (01.06.2005)
Published in Archives of otolaryngology--head & neck surgery (01.06.2005)
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