المؤلفون: Husson, Thomas^{Aff1, Aff2}, Lecoquierre, François, Nicolas, Gaël, Richard, Anne-Claire, Afenjar, Alexandra, Audebert-Bellanger, Séverine, Badens, Catherine, Bilan, Frédéric, Bizaoui, Varoona, Boland, Anne, Bonnet-Dupeyron, Marie-Noëlle, Brischoux-Boucher, Elise, Bonnet, Céline^{Aff12, Aff13}, Bournez, Marie, Boute, Odile, Brunelle, Perrine, Caumes, Roseline, Charles, Perrine, Chassaing, Nicolas, Chatron, Nicolas^{Aff19, Aff20}, Cogné, Benjamin^{Aff21, Aff22}, Colin, Estelle, Cormier-Daire, Valérie^{Aff24, Aff25}, Dard, Rodolphe, Dauriat, Benjamin, Delanne, Julian^{Aff28, Aff29}, Deleuze, Jean-François, Demurger, Florence, Denommé-Pichon, Anne-Sophie^{Aff29, Aff31}, Depienne, Christel, Dieux, Anne, Dubourg, Christèle^{Aff33, Aff34}, Edery, Patrick^{Aff19, Aff35}, El Chehadeh, Salima^{Aff36, Aff37, Aff38}, Faivre, Laurence^{Aff28, Aff29}, Fergelot, Patricia, Fradin, Mélanie, Garde, Aurore^{Aff28, Aff29}, Geneviève, David^{Aff41, Aff42}, Gilbert-Dussardier, Brigitte, Goizet, Cyril^{Aff44, Aff45}, Goldenberg, Alice, Gouy, Evan^{Aff19, Aff46}, Guerrot, Anne-Marie, Guimier, Anne, Harzalla, Inès, Héron, Delphine, Isidor, Bertrand^{Aff21, Aff22}, Lacombe, Didier, Le Guillou Horn, Xavier^{Aff50, Aff51}, Keren, Boris, Kuechler, Alma, Lacaze, Elodie, Lavillaureix, Alinoë, Lehalle, Daphné, Lesca, Gaëtan, Lespinasse, James, Levy, Jonathan, Lyonnet, Stanislas^{Aff57, Aff58}, Morel, Godeliève, Jean-Marçais, Nolwenn, Marlin, Sandrine, Marsili, Luisa, Mignot, Cyril, Nambot, Sophie, Nizon, Mathilde^{Aff21, Aff22}, Olaso, Robert, Pasquier, Laurent, Perrin, Laurine, Petit, Florence^{Aff15, Aff16}, Pingault, Veronique^{Aff61, Aff62}, Piton, Amélie, Prieur, Fabienne, Putoux, Audrey^{Aff19, Aff35}, Planes, Marc, Odent, Sylvie, Quélin, Chloé, Quemener-Redon, Sylvia^{Aff5, Aff64, Aff65}, Rama, Mélanie, Rio, Marlène, Rossi, Massimiliano^{Aff19, Aff35}, Schaefer, Elise, Rondeau, Sophie, Saugier-Veber, Pascale, Smol, Thomas^{Aff16, Aff66}, Sigaudy, Sabine, Touraine, Renaud, Mau-Them, Frederic Tran^{Aff29, Aff31}, Trimouille, Aurélien^{Aff69, Aff70}, Van Gils, Julien, Vanlerberghe, Clémence, Vantalon, Valérie, Vera, Gabriella, Vincent, Marie^{Aff21, Aff22}, Ziegler, Alban, Guillin, Olivier, Campion, Dominique, Charbonnier, Camille^{Aff72, IDs4143102301474x_cor98}

المصدر: European Journal of Human Genetics. 32(2):190-199

المؤلفون: de Sainte Agathe, Jean-Madeleine, Pode-Shakked, Ben, Naudion, Sophie, Michaud, Vincent, Arveiler, Benoit, Fergelot, Patricia, Delmas, Jean, Keren, Boris, Poirsier, Céline, Alkuraya, Fowzan, Tabarki, Brahim, Bend, Eric, Davis, Kellie, Bebin, Martina, Thompson, Michelle, Bryant, Emily, Wagner, Matias, Hannibal, Iris, Lenberg, Jerica, Krenn, Martin, Wigby, Kristen, Friedman, Jennifer, Iascone, Maria, Cereda, Anna, Miao, Térence, LeGuern, Eric, Sherr, Elliott, Caluseriu, Oana, Tidwell, Timothy, Bayrak-Toydemir, Pinar, Hagedorn, Caroline, Brugger, Melanie, Vill, Katharina, Morneau-Jacob, Francois-Dominique, Chung, Wendy, Weaver, Kathryn, Owens, Joshua, Husami, Ammar, Chaudhari, Bimal, Stone, Brandon, Burns, Katie, Li, Rachel, de Lange, Iris, Biehler, Margaux, Ginglinger, Emmanuelle, Gérard, Bénédicte, Stottmann, Rolf, Trimouille, Aurélien, Argilli, Emanuela

المصدر: Journal of Medical Genetics. 60(10)

مصطلحات موضوعية: epilepsy, human genetics, sequence analysis, DNA, Humans, Brain, Genotype, Intellectual Disability, Microcephaly, Periventricular Nodular Heterotopia, Phenotype, Seizures

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/7j44m3ns

المؤلفون: de Thonel, Aurélie^{Aff1, IDs41467023418694_cor1}, Ahlskog, Johanna K.^{Aff2, Aff3}, Daupin, Kevin, Dubreuil, Véronique, Berthelet, Jérémy, Chaput, Carole^{Aff1, Aff5}, Pires, Geoffrey, Leonetti, Camille, Abane, Ryma, Barris, Lluís Cordón, Leray, Isabelle, Aalto, Anna L.^{Aff2, Aff3}, Naceri, Sarah, Cordonnier, Marine^{Aff8, Aff9, Aff10}, Benasolo, Carène, Sanial, Matthieu, Duchateau, Agathe, Vihervaara, Anniina^{Aff2, Aff3, Aff18}, Puustinen, Mikael C.^{Aff2, Aff3}, Miozzo, Federico^{Aff1, Aff19}, Fergelot, Patricia, Lebigot, Élise, Verloes, Alain^{Aff14, Aff15}, Gressens, Pierre, Lacombe, Didier, Gobbo, Jessica^{Aff8, Aff9, Aff10}, Garrido, Carmen^{Aff8, Aff9, Aff10}, Westerheide, Sandy D., David, Laurent, Petitjean, Michel, Taboureau, Olivier, Rodrigues-Lima, Fernando, Passemard, Sandrine, Sabéran-Djoneidi, Délara, Nguyen, Laurent, Lancaster, Madeline, Sistonen, Lea^{Aff2, Aff3}, Mezger, Valérie^{Aff1, IDs41467023418694_cor38}

المصدر: Nature Communications. 14(1)

المؤلفون: Angius, Andrea, Baker, Janice A., Bedoukian, Emma, Bhambhani, Vikas, Bodamer, Olaf, O’Brien, Alan, Clayton-Smith, Jill, Crisponi, Laura, Cueto González, Anna María, the DDD study, Devriendt, Koenraad, Garrido, Elena Dominguez, Ehmke, Nadja, van Eerde, Albertien, van den Elzen, Annette P.M., Faivre, Laurence, Fisher, Laura, Flores-Daboub, Josue A., Foster, Alison, Friedman, Jennifer, Gabau, Elisabeth, Galazzi, Elena, García-Miñaúr, Sixto, Garavelli, Livia, Gardeitchik, Thatjana, Gerkes, Erica H., van Gils, Julien, Giltay, Jacques C., Garcia, Aixa Gonzalez, Heimdal, Ketil Riddervold, Horn, Denise, Houge, Gunnar, Hufnagel, Sophia B., Ilencikova, Denisa, Julia, Sophie, Kant, Sarina G., Kinning, Esther, Klee, Eric W., Kois, Chelsea, Kovačević, Maja, Lachmeijer, A.M.A. (Guus), Lanpher, Brendan, Lebrun, Marine, Leon, Eyby, Lichty, Angie Ward, Lin, Ruth, Llano-Rivas, Isabel, Lynch, Sally Ann, Maas, Saskia M., Maitz, Silvia B., McKee, Shane, Melis, Daniela, Merati, Elisabetta, Merla, Giuseppe, Newbury-Ecob, Ruth, Nizon, Mathilde, Park, Soo-Mi, Patterson, Jennifer, Petit, Florence, Peeters, Hilde, Persani, Luca, Persico, Ivana, Pes, Valentina, Pollazzon, Marzia, Potjer, Thomas, Potocki, Lorraine, Pottinger, Carrie, Prasad, Chitra, Prijoles, Eloise J., Ragge, Nicola K., Rake, Jan Peter, van Ravenswaaij-Arts, Conny M.A., Rea, Gillian, Ruivenkamp, Claudia, Rutz, Audrey, Saitta, Sulagna C., Russo, Rossana Sanchez, Santen, Gijs W.E., Schaefer, Elise, Shashi, Vandana, Schultz-Rogers, Laura, Sluga, Andrea, Sotgiu, Stefano, Steichen-Gersdorf, Elisabeth, Sullivan, Jennifer A., Sun, Yu, Suri, Mohnish, Tartaglia, Marco, Tedder, Matt, Terhal, Paulien, Tully, Ian, Verbeek, Nienke, Wenzel, Maren, White, Susan M., Xiao, Bing, Haghshenas, Sadegheh, Bout, Hidde J., Schijns, Josephine M., Levy, Michael A., Kerkhof, Jennifer, Bhai, Pratibha, McConkey, Haley, Jenkins, Zandra A., Williams, Ella M., Halliday, Benjamin J., Huisman, Sylvia A., Lauffer, Peter, de Waard, Vivian, Witteveen, Laura, Banka, Siddharth, Brady, Angela F., Hurst, Anna C.E., Kaiser, Frank J., Lacombe, Didier, Martinez-Monseny, Antonio F., Fergelot, Patricia, Monteiro, Fabíola P., Parenti, Ilaria, Santos-Simarro, Fernando, Simpson, Brittany N., Alders, Mariëlle, Robertson, Stephen P., Sadikovic, Bekim, Menke, Leonie A.

المصدر: In Human Genetics and Genomics Advances 18 July 2024 5(3)

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المؤلفون: de Thonel, Aurélie^{Aff1, IDs41467022344762_cor1}, Ahlskog, Johanna K.^{Aff2, Aff3}, Daupin, Kevin, Dubreuil, Véronique, Berthelet, Jérémy, Chaput, Carole^{Aff1, Aff5}, Pires, Geoffrey, Leonetti, Camille, Abane, Ryma, Barris, Lluís Cordón, Leray, Isabelle, Aalto, Anna L.^{Aff2, Aff3}, Naceri, Sarah, Cordonnier, Marine^{Aff8, Aff9, Aff10}, Benasolo, Carène, Sanial, Matthieu, Duchateau, Agathe, Vihervaara, Anniina^{Aff2, Aff3, Aff18}, Puustinen, Mikael C.^{Aff2, Aff3}, Miozzo, Federico^{Aff1, Aff19}, Fergelot, Patricia, Lebigot, Élise, Verloes, Alain^{Aff14, Aff15}, Gressens, Pierre, Lacombe, Didier, Gobbo, Jessica^{Aff8, Aff9, Aff10}, Garrido, Carmen^{Aff8, Aff9, Aff10}, Westerheide, Sandy D., David, Laurent, Petitjean, Michel, Taboureau, Olivier, Rodrigues-Lima, Fernando, Passemard, Sandrine, Sabéran-Djoneidi, Délara, Nguyen, Laurent, Lancaster, Madeline, Sistonen, Lea^{Aff2, Aff3}, Mezger, Valérie^{Aff1, IDs41467022344762_cor38}

المصدر: Nature Communications. 13(1)

المؤلفون: Taupiac, Emmanuelle, Lacombe, Didier, Thiébaut, Eric, Van-Gils, Julien, Michel, Grégory, Fergelot, Patricia, Adrien, Jean-Louis

المصدر: Journal of Intellectual & Developmental Disability. 2021 46(1):80-89.

Peer Reviewed: Y

Page Count: 10

Descriptors: Genetic Disorders, Congenital Impairments, Severe Intellectual Disability, Children, Delayed Speech, Psychomotor Skills, Motor Development, Expressive Language, Play, Imitation, Social Development, Emotional Development, Child Development, Foreign Countries, Cognitive Development

مصطلحات جغرافية: France

المؤلفون: Billon, Clarisse^{Aff1, Aff2, IDs13023021021281_cor1}, Adham, Salma^{Aff1, Aff3}, Hernandez Poblete, Natalia^{Aff4, Aff5}, Legrand, Anne^{Aff1, Aff2}, Frank, Michael^{Aff1, Aff2}, Chiche, Laurent^{Aff6, Aff7}, Zuily, Stephane^{Aff8, Aff9}, Benistan, Karelle^{Aff10, Aff11}, Savale, Laurent^{Aff12, Aff13, Aff14}, Zaafrane-Khachnaoui, Khaoula, Brehin, Anne-Claire, Bal, Laurence, Busa, Tiffany, Fradin, Mélanie, Quelin, Chloé, Chesneau, Bertrand^{Aff20, Aff21}, Wahl, Denis^{Aff8, Aff9}, Fergelot, Patricia^{Aff4, Aff5}, Goizet, Cyril^{Aff4, Aff6}, Mirault, Tristan^{Aff1, Aff2}, Jeunemaitre, Xavier^{Aff1, Aff2}, Albuisson, Juliette^{Aff1, Aff2, Aff22}

المصدر: Orphanet Journal of Rare Diseases. 16(1)

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