المؤلفون: Armand, Alexandre^{Aff1, Aff2, IDs00520023078125_cor1}, Rochette, Emmanuelle^{Aff1, Aff2, Aff3}, Grèze, Victoria^{Aff1, Aff2}, Monzy, Severine, Dualé, Christian, Pereira, Bruno, Isfan, Florentina, Doré, Eric, Girard-Monin, Pauline, Pegon, Charline, Labraise, Emmanuelle^{Aff1, Aff2}, Duché, Pascale, Kanold, Justyna^{Aff1, Aff2}

المصدر: Supportive Care in Cancer. 31(6)

المؤلفون: Zawerton, Ash, Mignot, Cyril, Sigafoos, Ashley, Blackburn, Patrick R, Haseeb, Abdul, McWalter, Kirsty, Ichikawa, Shoji, Nava, Caroline, Keren, Boris, Charles, Perrine, Marey, Isabelle, Tabet, Anne-Claude, Levy, Jonathan, Perrin, Laurence, Hartmann, Andreas, Lesca, Gaetan, Schluth-Bolard, Caroline, Monin, Pauline, Dupuis-Girod, Sophie, Guillen Sacoto, Maria J, Schnur, Rhonda E, Zhu, Zehua, Poisson, Alice, El Chehadeh, Salima, Alembik, Yves, Bruel, Ange-Line, Lehalle, Daphné, Nambot, Sophie, Moutton, Sébastien, Odent, Sylvie, Jaillard, Sylvie, Dubourg, Christèle, Hilhorst-Hofstee, Yvonne, Barbaro-Dieber, Tina, Ortega, Lucia, Bhoj, Elizabeth J, Masser-Frye, Diane, Bird, Lynne M, Lindstrom, Kristin, Ramsey, Keri M, Narayanan, Vinodh, Fassi, Emily, Willing, Marcia, Cole, Trevor, Salter, Claire G, Akilapa, Rhoda, Vandersteen, Anthony, Canham, Natalie, Rump, Patrick, Gerkes, Erica H, Klein Wassink-Ruiter, Jolien S, Bijlsma, Emilia, Hoffer, Mariëtte JV, Vargas, Marcelo, Wojcik, Antonina, Cherik, Florian, Francannet, Christine, Rosenfeld, Jill A, Machol, Keren, Scott, Daryl A, Bacino, Carlos A, Wang, Xia, Clark, Gary D, Bertoli, Marta, Zwolinski, Simon, Thomas, Rhys H, Akay, Ela, Chang, Richard C, Bressi, Rebekah, Sanchez Russo, Rossana, Srour, Myriam, Russell, Laura, Goyette, Anne-Marie E, Dupuis, Lucie, Mendoza-Londono, Roberto, Karimov, Catherine, Joseph, Maries, Nizon, Mathilde, Cogné, Benjamin, Kuechler, Alma, Piton, Amélie, Klee, Eric W, Lefebvre, Véronique, Clark, Karl J, Depienne, Christel

المصدر: Genetics in Medicine. 22(3)

مصطلحات موضوعية: Intellectual and Developmental Disabilities (IDD), Pediatric, Genetics, Brain Disorders, Clinical Research, Rare Diseases, Human Genome, Aetiology, 2.1 Biological and endogenous factors, Adolescent, Adult, Animals, Child, Child, Preschool, DNA-Binding Proteins, Female, Genetic Predisposition to Disease, Haploinsufficiency, Humans, Infant, Intellectual Disability, Language Development Disorders, Male, Mutation, Missense, Neurodevelopmental Disorders, Pedigree, Phenotype, SOXD Transcription Factors, Young Adult, autism, developmental delay, intellectual disability, epilepsy, missense variants, Deciphering Developmental DisorderStudy, missense variants., Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/14x4x4wp

المؤلفون: Lesca, Gaetan, Baumgartner, Tobias, Monin, Pauline, De Dominicis, Angela, Kunz, Wolfram S., Specchio, Nicola

المصدر: In European Journal of Medical Genetics September 2022 65(9)

المؤلفون: Huguet, Guillaume^{Aff1, Aff2}, Schramm, Catherine^{Aff1, Aff2, Aff3}, Douard, Elise^{Aff1, Aff2}, Tamer, Petra^{Aff1, Aff2}, Main, Antoine^{Aff2, Aff4}, Monin, Pauline^{Aff2, Aff5}, England, Jade^{Aff1, Aff2}, Jizi, Khadije^{Aff1, Aff2}, Renne, Thomas^{Aff2, Aff6}, Poirier, Myriam^{Aff1, Aff2}, Nowak, Sabrina^{Aff1, Aff2}, Martin, Charles-Olivier^{Aff1, Aff2}, Younis, Nadine^{Aff1, Aff2}, Knoth, Inga Sophia^{Aff1, Aff2}, Jean-Louis, Martineau^{Aff1, Aff2}, Saci, Zohra^{Aff1, Aff2}, Auger, Maude^{Aff1, Aff2}, Tihy, Frédérique^{Aff1, Aff2}, Mathonnet, Géraldine^{Aff1, Aff2}, Maftei, Catalina^{Aff1, Aff2}, Léveillé, France^{Aff1, Aff2}, Porteous, David^{Aff7, Aff8, Aff9}, Davies, Gail, Redmond, Paul, Harris, Sarah E., Hill, W. David, Lemyre, Emmanuelle^{Aff1, Aff2}, Schumann, Gunter, Bourgeron, Thomas^{Aff11, Aff12, Aff13}, Pausova, Zdenka, Paus, Tomas, Karama, Sherif^{Aff16, Aff17, Aff18}, Lippe, Sarah^{Aff2, Aff19}, Deary, Ian J., Almasy, Laura, Labbe, Aurélie, Glahn, David^{Aff21, Aff22}, Greenwood, Celia M. T.^{Aff3, Aff23}, Jacquemont, Sébastien^{Aff1, Aff2}

المصدر: Molecular Psychiatry. 26(6):2663-2676

المؤلفون: Stamberger, Hannah^{Aff1, Aff2}, Hammer, Trine B.^{Aff3, Aff4}, Gardella, Elena^{Aff3, Aff5}, Vlaskamp, Danique R. M.^{Aff1, Aff6, Aff7}, Bertelsen, Birgitte, Mandelstam, Simone^{Aff9, Aff10, Aff11, Aff12, Aff13}, de Lange, Iris, Zhang, Jing, Myers, Candace T., Fenger, Christina, Afawi, Zaid, Almanza Fuerte, Edith P., Andrade, Danielle M., Balcik, Yunus, Ben Zeev, Bruria^{Aff20, Aff21}, Bennett, Mark F.^{Aff1, Aff22, Aff23}, Berkovic, Samuel F., Isidor, Bertrand, Bouman, Arjan, Brilstra, Eva, Busk, Øyvind L., Cairns, Anita, Caumes, Roseline, Chatron, Nicolas, Dale, Russell C., de Geus, Christa, Edery, Patrick^{Aff29, Aff32}, Gill, Deepak, Granild-Jensen, Jacob Bie, Gunderson, Lauren, Gunning, Boudewijn, Heimer, Gali^{Aff20, Aff21}, Helle, Johan R., Hildebrand, Michael S.^{Aff1, Aff10}, Hollingsworth, Georgie, Kharytonov, Volodymyr, Klee, Eric W.^{Aff34, Aff37}, Koeleman, Bobby P. C., Koolen, David A., Korff, Christian, Küry, Sébastien, Lesca, Gaetan, Lev, Dorit^{Aff21, Aff40}, Leventer, Richard J.^{Aff9, Aff10, Aff11}, Mackay, Mark T.^{Aff9, Aff10, Aff11}, Macke, Erica L., McEntagart, Meriel, Mohammad, Shekeeb S., Monin, Pauline, Montomoli, Martino, Morava, Eva^{Aff34, Aff37}, Moutton, Sebastien^{Aff43, Aff44}, Muir, Alison M., Parrini, Elena, Procopis, Peter^{Aff30, Aff45}, Ranza, Emmanuelle, Reed, Laura, Reif, Philipp S., Rosenow, Felix, Rossi, Massimiliano^{Aff29, Aff32}, Sadleir, Lynette G., Sadoway, Tara, Schelhaas, Helenius J., Schneider, Amy L., Shah, Krati, Shalev, Ruth, Sisodiya, Sanjay M., Smol, Thomas, Stumpel, Connie T. R. M., Stuurman, Kyra, Symonds, Joseph D.^{Aff54, Aff55}, Mau-Them, Frederic Tran^{Aff56, Aff57}, Verbeek, Nienke, Verhoeven, Judith S., Wallace, Geoffrey^{Aff27, Aff59}, Yosovich, Keren, Zarate, Yuri A., Zerem, Ayelet^{Aff21, Aff62}, Zuberi, Sameer M.^{Aff54, Aff55}, Guerrini, Renzo, Mefford, Heather C., Patel, Chirag, Zhang, Yue-Hua, Møller, Rikke S.^{Aff3, Aff5}, Scheffer, Ingrid E.^{Aff1, Aff9, Aff10, Aff11, Aff13}

المصدر: Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 23(2):363-373

المؤلفون: Bradbrook, Sam, Graham, Gail, Carter, Melissa, Kibaek, Maria, Larsen, Martin, Fagerberg, Christina, Dawson, Katherine, Meuter, Cheryl, Pepler, Alexander, Besnard, Thomas, Isidor, Bertrand, Bezieau, Stéphane, Cogné, Benjamin, Vincent, Marie, Bjorgo, Katherine, Courtin, Thomas, Emrick, Lisa, Rosenfeld, Jill, Network, Undiagnosed Diseases, Martinez-Agosto, Julian, Heulin, Mathilde, Morin, Gilles, Monin, Pauline, Januel, Louis, Bonnet-Dupeyron, Marie-Noëlle, Pujalte, Mathilde, Worley, Kim, Weisz-Hubshman, Monika, Dickson, Patricia, Thompson, Michelle, Marcadier, Julien

المصدر: In Genetics in Medicine Open 2024 2 Supplement 1

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المؤلفون: Huguet, Guillaume, Schramm, Catherine, Douard, Elise, Petra, Tamer, Main, Antoine, Monin, Pauline, England, Jade, Jizi, Khadije, Renne, Thomas, Poirier, Myriam, Nowak, Sabrina, Martin, Charles-Olivier, Younis, Nadine, Knoth, Inga Sophia, Jean-Louis, Martineau, Saci, Zohra, Auger, Maude, Tihy, Frédérique, Mathonnet, Géraldine, Maftei, Catalina, Léveillé, France, Porteous, David, Davies, Gail, Redmond, Paul, Harris, Sarah E., Hill, W. David, Lemyre, Emmanuelle, Schumann, Gunter, Bourgeron, Thomas, Pausova, Zdenka, Paus, Tomas, Karama, Sherif, Lippe, Sarah, Deary, Ian J., Almasy, Laura, Labbe, Aurélie, Glahn, David, Greenwood, Celia M.T., Jacquemont, Sébastien

مصطلحات موضوعية: endocrine system diseases, mental disorders

URL الوصول: https://explore.openaire.eu/search/publication?articleId=sharebioRxiv::9d6fa59e2d59de11e995f6b60e232585