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1دورية أكاديمية
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
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2دورية أكاديمية
المؤلفون: Husson, ThomasAff1, 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, CélineAff12, Aff13, Bournez, Marie, Boute, Odile, Brunelle, Perrine, Caumes, Roseline, Charles, Perrine, Chassaing, Nicolas, Chatron, NicolasAff19, Aff20, Cogné, BenjaminAff21, Aff22, Colin, Estelle, Cormier-Daire, ValérieAff24, Aff25, Dard, Rodolphe, Dauriat, Benjamin, Delanne, JulianAff28, Aff29, Deleuze, Jean-François, Demurger, Florence, Denommé-Pichon, Anne-SophieAff29, Aff31, Depienne, Christel, Dieux, Anne, Dubourg, ChristèleAff33, Aff34, Edery, PatrickAff19, Aff35, El Chehadeh, SalimaAff36, Aff37, Aff38, Faivre, LaurenceAff28, Aff29, Fergelot, Patricia, Fradin, Mélanie, Garde, AuroreAff28, Aff29, Geneviève, DavidAff41, Aff42, Gilbert-Dussardier, Brigitte, Goizet, CyrilAff44, Aff45, Goldenberg, Alice, Gouy, EvanAff19, Aff46, Guerrot, Anne-Marie, Guimier, Anne, Harzalla, Inès, Héron, Delphine, Isidor, BertrandAff21, Aff22, Lacombe, Didier, Le Guillou Horn, XavierAff50, Aff51, Keren, Boris, Kuechler, Alma, Lacaze, Elodie, Lavillaureix, Alinoë, Lehalle, Daphné, Lesca, Gaëtan, Lespinasse, James, Levy, Jonathan, Lyonnet, StanislasAff57, Aff58, Morel, Godeliève, Jean-Marçais, Nolwenn, Marlin, Sandrine, Marsili, Luisa, Mignot, Cyril, Nambot, Sophie, Nizon, MathildeAff21, Aff22, Olaso, Robert, Pasquier, Laurent, Perrin, Laurine, Petit, FlorenceAff15, Aff16, Pingault, VeroniqueAff61, Aff62, Piton, Amélie, Prieur, Fabienne, Putoux, AudreyAff19, Aff35, Planes, Marc, Odent, Sylvie, Quélin, Chloé, Quemener-Redon, SylviaAff5, Aff64, Aff65, Rama, Mélanie, Rio, Marlène, Rossi, MassimilianoAff19, Aff35, Schaefer, Elise, Rondeau, Sophie, Saugier-Veber, Pascale, Smol, ThomasAff16, Aff66, Sigaudy, Sabine, Touraine, Renaud, Mau-Them, Frederic TranAff29, Aff31, Trimouille, AurélienAff69, Aff70, Van Gils, Julien, Vanlerberghe, Clémence, Vantalon, Valérie, Vera, Gabriella, Vincent, MarieAff21, Aff22, Ziegler, Alban, Guillin, Olivier, Campion, Dominique, Charbonnier, CamilleAff72, IDs4143102301474x_cor98
المصدر: European Journal of Human Genetics. 32(2):190-199
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3دورية أكاديمية
المؤلفون: de Thonel, AurélieAff1, IDs41467023418694_cor1, Ahlskog, Johanna K.Aff2, Aff3, Daupin, Kevin, Dubreuil, Véronique, Berthelet, Jérémy, Chaput, CaroleAff1, Aff5, Pires, Geoffrey, Leonetti, Camille, Abane, Ryma, Barris, Lluís Cordón, Leray, Isabelle, Aalto, Anna L.Aff2, Aff3, Naceri, Sarah, Cordonnier, MarineAff8, Aff9, Aff10, Benasolo, Carène, Sanial, Matthieu, Duchateau, Agathe, Vihervaara, AnniinaAff2, Aff3, Aff18, Puustinen, Mikael C.Aff2, Aff3, Miozzo, FedericoAff1, Aff19, Fergelot, Patricia, Lebigot, Élise, Verloes, AlainAff14, Aff15, Gressens, Pierre, Lacombe, Didier, Gobbo, JessicaAff8, Aff9, Aff10, Garrido, CarmenAff8, Aff9, Aff10, Westerheide, Sandy D., David, Laurent, Petitjean, Michel, Taboureau, Olivier, Rodrigues-Lima, Fernando, Passemard, Sandrine, Sabéran-Djoneidi, Délara, Nguyen, Laurent, Lancaster, Madeline, Sistonen, LeaAff2, Aff3, Mezger, ValérieAff1, IDs41467023418694_cor38
المصدر: Nature Communications. 14(1)
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4دورية أكاديمية
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5دورية أكاديمية
المؤلفون: Aurélie de Thonel, Johanna K. Ahlskog, Kevin Daupin, Véronique Dubreuil, Jérémy Berthelet, Carole Chaput, Geoffrey Pires, Camille Leonetti, Ryma Abane, Lluís Cordón Barris, Isabelle Leray, Anna L. Aalto, Sarah Naceri, Marine Cordonnier, Carène Benasolo, Matthieu Sanial, Agathe Duchateau, Anniina Vihervaara, Mikael C. Puustinen, Federico Miozzo, Patricia Fergelot, Élise Lebigot, Alain Verloes, Pierre Gressens, Didier Lacombe, Jessica Gobbo, Carmen Garrido, Sandy D. Westerheide, Laurent David, Michel Petitjean, Olivier Taboureau, Fernando Rodrigues-Lima, Sandrine Passemard, Délara Sabéran-Djoneidi, Laurent Nguyen, Madeline Lancaster, Lea Sistonen, Valérie Mezger
المصدر: Nature Communications, Vol 13, Iss 1, Pp 1-21 (2022)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
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6دورية أكاديمية
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
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7دورية أكاديمية
المؤلفون: de Thonel, AurélieAff1, IDs41467022344762_cor1, Ahlskog, Johanna K.Aff2, Aff3, Daupin, Kevin, Dubreuil, Véronique, Berthelet, Jérémy, Chaput, CaroleAff1, Aff5, Pires, Geoffrey, Leonetti, Camille, Abane, Ryma, Barris, Lluís Cordón, Leray, Isabelle, Aalto, Anna L.Aff2, Aff3, Naceri, Sarah, Cordonnier, MarineAff8, Aff9, Aff10, Benasolo, Carène, Sanial, Matthieu, Duchateau, Agathe, Vihervaara, AnniinaAff2, Aff3, Aff18, Puustinen, Mikael C.Aff2, Aff3, Miozzo, FedericoAff1, Aff19, Fergelot, Patricia, Lebigot, Élise, Verloes, AlainAff14, Aff15, Gressens, Pierre, Lacombe, Didier, Gobbo, JessicaAff8, Aff9, Aff10, Garrido, CarmenAff8, Aff9, Aff10, Westerheide, Sandy D., David, Laurent, Petitjean, Michel, Taboureau, Olivier, Rodrigues-Lima, Fernando, Passemard, Sandrine, Sabéran-Djoneidi, Délara, Nguyen, Laurent, Lancaster, Madeline, Sistonen, LeaAff2, Aff3, Mezger, ValérieAff1, IDs41467022344762_cor38
المصدر: Nature Communications. 13(1)
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8دورية أكاديمية
المؤلفون: Aurélie de Thonel, Johanna K. Ahlskog, Kevin Daupin, Véronique Dubreuil, Jérémy Berthelet, Carole Chaput, Geoffrey Pires, Camille Leonetti, Ryma Abane, Lluís Cordón Barris, Isabelle Leray, Anna L. Aalto, Sarah Naceri, Marine Cordonnier, Carène Benasolo, Matthieu Sanial, Agathe Duchateau, Anniina Vihervaara, Mikael C. Puustinen, Federico Miozzo, Patricia Fergelot, Élise Lebigot, Alain Verloes, Pierre Gressens, Didier Lacombe, Jessica Gobbo, Carmen Garrido, Sandy D. Westerheide, Laurent David, Michel Petitjean, Olivier Taboureau, Fernando Rodrigues-Lima, Sandrine Passemard, Délara Sabéran-Djoneidi, Laurent Nguyen, Madeline Lancaster, Lea Sistonen, Valérie Mezger
المصدر: Nature Communications, Vol 14, Iss 1, Pp 1-1 (2023)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
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9دورية أكاديمية
المؤلفون: Clarisse Billon, Salma Adham, Natalia Hernandez Poblete, Anne Legrand, Michael Frank, Laurent Chiche, Stephane Zuily, Karelle Benistan, Laurent Savale, Khaoula Zaafrane-Khachnaoui, Anne-Claire Brehin, Laurence Bal, Tiffany Busa, Mélanie Fradin, Chloé Quelin, Bertrand Chesneau, Denis Wahl, Patricia Fergelot, Cyril Goizet, Tristan Mirault, Xavier Jeunemaitre, Juliette Albuisson, Bordeaux-cohort collaborators
المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-13 (2021)
مصطلحات موضوعية: FLNA, Connective tissue disorder, Aortic aneurysm and dissection, Cardiovascular anomalies, Ehlers–Danlos, Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1750-1172
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10دورية أكاديمية
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تسجيل الدخول للوصول الكامل.