22q13 deletion syndrome: communication disorder or autism? Evidence from a specific clinical and neurophysiological phenotype

por Ponson, Laura, Gomot, Marie, Blanc, Romuald, Barthelemy, Catherine, Roux, Sylvie, Munnich, Arnold, Romana, Serge, Aguillon-Hernandez, Nadia, Malan, Valérie, Bonnet-Brilhault, Frédérique
Publicado 2018

Author Correction: 22q13 deletion syndrome: communication disorder or autism? Evidence from a specific clinical and neurophysiological phenotype

por Ponson, Laura, Gomot, Marie, Blanc, Romuald, Barthelemy, Catherine, Roux, Sylvie, Munnich, Arnold, Romana, Serge, Aguillon-Hernandez, Nadia, Malan, Valérie, Bonnet-Brilhault, Frédérique
Publicado 2019

Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability

por Reggiani, Claudio, Coppens, Sandra, Sekhara, Tayeb, Dimov, Ivan, Pichon, Bruno, Lufin, Nicolas, Addor, Marie-Claude, Belligni, Elga Fabia, Digilio, Maria Cristina, Faletra, Flavio, Ferrero, Giovanni Battista, Gerard, Marion, Isidor, Bertrand, Joss, Shelagh, Niel-Bütschi, Florence, Perrone, Maria Dolores, Petit, Florence, Renieri, Alessandra, Romana, Serge, Topa, Alexandra, Vermeesch, Joris Robert, Lenaerts, Tom, Casimir, Georges, Abramowicz, Marc, Bontempi, Gianluca, Vilain, Catheline, Deconinck, Nicolas, Smits, Guillaume
Publicado 2017

Genome sequencing in cytogenetics: Comparison of short‐read and linked‐read approaches for germline structural variant detection and characterization

por Uguen, Kévin, Jubin, Claire, Duffourd, Yannis, Bardel, Claire, Malan, Valérie, Dupont, Jean‐Michel, El Khattabi, Laila, Chatron, Nicolas, Vitobello, Antonio, Rollat‐Farnier, Pierre‐Antoine, Baulard, Céline, Lelorch, Marc, Leduc, Aurélie, Tisserant, Emilie, Tran Mau‐Them, Frédéric, Danjean, Vincent, Delepine, Marc, Till, Marianne, Meyer, Vincent, Lyonnet, Stanislas, Mosca‐Boidron, Anne‐laure, Thevenon, Julien, Faivre, Laurence, Thauvin‐Robinet, Christel, Schluth‐Bolard, Caroline, Boland, Anne, Olaso, Robert, Callier, Patrick, Romana, Serge, Deleuze, Jean‐François, Sanlaville, Damien
Publicado 2020

Human IRF1 governs macrophagic IFN-γ immunity to mycobacteria

por Rosain, Jérémie, Neehus, Anna-Lena, Manry, Jeremy, Yang, Rui, Le Pen, Jérémie, Daher, Wassim, Liu, Zhiyong, Chan, Yi-Hao, Tahuil, Natalia, Türel, Özden, Bourgey, Mathieu, Ogishi, Masato, Doisne, Jean-Marc, Izquierdo, Helena M., Shirasaki, Takayoshi, Le Voyer, Tom, Guérin, Antoine, Bastard, Paul, Moncada-Velez, Marcela, Han, Ji Eun, Khan, Taushif, Rapaport, Franck, Hong, Seon-Hui, Cheung, Andrew, Haake, Kathrin, Mindt, Barbara C., Perez, Laura, Philippot, Quentin, Lee, Danyel, Zhang, Peng, Rinchai, Darawan, Al Ali, Fatima, Ata, Manar Mahmoud Ahmad, Rahman, Mahbuba, Peel, Jessica N., Heissel, Søren, Molina, Henrik, Kendir-Demirkol, Yasemin, Bailey, Rasheed, Zhao, Shuxiang, Bohlen, Jonathan, Mancini, Mathieu, Seeleuthner, Yoann, Roelens, Marie, Lorenzo, Lazaro, Soudée, Camille, Paz, María Elvira Josefina, Gonzalez, Maria Laura, Jeljeli, Mohamed, Soulier, Jean, Romana, Serge, L’Honneur, Anne-Sophie, Materna, Marie, Martínez-Barricarte, Rubén, Pochon, Mathieu, Oleaga-Quintas, Carmen, Michev, Alexandre, Migaud, Mélanie, Lévy, Romain, Alyanakian, Marie-Alexandra, Rozenberg, Flore, Croft, Carys A., Vogt, Guillaume, Emile, Jean-François, Kremer, Laurent, Ma, Cindy S., Fritz, Jörg H., Lemon, Stanley M., Spaan, András N., Manel, Nicolas, Abel, Laurent, MacDonald, Margaret R., Boisson-Dupuis, Stéphanie, Marr, Nico, Tangye, Stuart G., Di Santo, James P., Zhang, Qian, Zhang, Shen-Ying, Rice, Charles M., Béziat, Vivien, Lachmann, Nico, Langlais, David, Casanova, Jean-Laurent, Gros, Philippe, Bustamante, Jacinta
Publicado 2023