Ultrarare heterozygous pathogenic variants of genes causing dominant forms of early-onset deafness underlie severe presbycusis

بواسطة Boucher, Sophie, Tai, Fabienne Wong Jun, Delmaghani, Sedigheh, Lelli, Andrea, Singh-Estivalet, Amrit, Dupont, Typhaine, Niasme-Grare, Magali, Michel, Vincent, Wolff, Nicolas, Bahloul, Amel, Bouyacoub, Yosra, Bouccara, Didier, Fraysse, Bernard, Deguine, Olivier, Collet, Lionel, Thai-Van, Hung, Ionescu, Eugen, Kemeny, Jean-Louis, Giraudet, Fabrice, Lavieille, Jean-Pierre, Devèze, Arnaud, Roudevitch-Pujol, Anne-Laure, Vincent, Christophe, Renard, Christian, Franco-Vidal, Valérie, Thibult-Apt, Claire, Darrouzet, Vincent, Bizaguet, Eric, Coez, Arnaud, Aschard, Hugues, Michalski, Nicolas, Lefevre, Gaëlle M., Aubois, Anne, Avan, Paul, Bonnet, Crystel, Petit, Christine
الحاوية / القاعدة Proc Natl Acad Sci U S A (2020)

Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis

بواسطة Bonnet, Crystel, Grati, M'hamed, Marlin, Sandrine, Levilliers, Jacqueline, Hardelin, Jean-Pierre, Parodi, Marine, Niasme-Grare, Magali, Zelenika, Diana, Délépine, Marc, Feldmann, Delphine, Jonard, Laurence, El-Amraoui, Aziz, Weil, Dominique, Delobel, Bruno, Vincent, Christophe, Dollfus, Hélène, Eliot, Marie-Madeleine, David, Albert, Calais, Catherine, Vigneron, Jacqueline, Montaut-Verient, Bettina, Bonneau, Dominique, Dubin, Jacques, Thauvin, Christel, Duvillard, Alain, Francannet, Christine, Mom, Thierry, Lacombe, Didier, Duriez, Françoise, Drouin-Garraud, Valérie, Thuillier-Obstoy, Marie-Françoise, Sigaudy, Sabine, Frances, Anne-Marie, Collignon, Patrick, Challe, Georges, Couderc, Rémy, Lathrop, Mark, Sahel, José-Alain, Weissenbach, Jean, Petit, Christine, Denoyelle, Françoise
منشور في 2011