المؤلفون: Engel, Camille^{Aff1, IDs4143102301410z_cor1}, Valence, Stéphanie, Delplancq, Geoffroy, Maroofian, Reza, Accogli, Andrea, Agolini, Emanuele, Alkuraya, Fowzan S., Baglioni, Valentina, Bagnasco, Irene, Becmeur-Lefebvre, Mathilde, Bertini, Enrico, Borggraefe, Ingo, Brischoux-Boucher, Elise, Bruel, Ange-Line^{Aff12, Aff13}, Brusco, Alfredo, Bubshait, Dalal K., Cabrol, Christelle, Cilio, Maria Roberta, Cornet, Marie-Coralie, Coubes, Christine, Danhaive, Olivier, Delague, Valérie, Denommé-Pichon, Anne-Sophie^{Aff12, Aff13}, Di Giacomo, Marilena Carmela, Doco-Fenzy, Martine^{Aff22, Aff23, Aff24}, Engels, Hartmut, Cremer, Kirsten, Gérard, Marion, Gleeson, Joseph G., Heron, Delphine, Goffeney, Joanna, Guimier, Anne, Harms, Frederike L., Houlden, Henry, Iacomino, Michele, Kaiyrzhanov, Rauan, Kamien, Benjamin, Karimiani, Ehsan Ghayoor^{Aff34, Aff35}, Kraus, Dror^{Aff36, Aff37}, Kuentz, Paul^{Aff12, Aff38}, Kutsche, Kerstin, Lederer, Damien, Massingham, Lauren, Mignot, Cyril^{Aff41, Aff42}, Morris-Rosendahl, Déborah^{Aff43, Aff44}, Nagarajan, Lakshmi^{Aff45, Aff46}, Odent, Sylvie, Ormières, Clothilde, Partlow, Jennifer Neil, Pasquier, Laurent, Penney, Lynette, Philippe, Christophe^{Aff12, Aff13}, Piccolo, Gianluca, Poulton, Cathryn, Putoux, Audrey^{Aff51, Aff52}, Rio, Marlène, Rougeot, Christelle, Salpietro, Vincenzo^{Aff3, Aff54, Aff55}, Scheffer, Ingrid^{Aff56, Aff57}, Schneider, Amy, Srivastava, Siddharth, Straussberg, Rachel, Striano, Pasquale^{Aff54, Aff55}, Valente, Enza Maria^{Aff59, Aff60}, Venot, Perrine, Villard, Laurent^{Aff20, Aff62}, Vitobello, Antonio^{Aff12, Aff13}, Wagner, Johanna, Wagner, Matias^{Aff11, Aff63, Aff64}, Zaki, Maha S., Zara, Federizo^{Aff54, Aff55}, Lesca, Gaetan^{Aff51, Aff66}, Yassaee, Vahid Reza, Miryounesi, Mohammad, Hashemi-Gorji, Farzad, Beiraghi, Mehran, Ashrafzadeh, Farah, Galehdari, Hamid, Walsh, Christopher, Novelli, Antonio, Tacke, Moritz, Sadykova, Dinara, Maidyrov, Yerdan, Koneev, Kairgali, Shashkin, Chingiz, Capra, Valeria, Zamani, Mina, Van Maldergem, Lionel, Burglen, Lydie, Piard, Juliette^{Aff1, Aff12}

المصدر: European Journal of Human Genetics. 31(9):1023-1031

المؤلفون: Velmans, Clara, O'Donnell-Luria, Anne H, Argilli, Emanuela, Mau-them, Frederic Tran, Vitobello, Antonio, Chan, Marcus CY, Fung, Jasmine Lee-Fong, Rech, Megan, Abicht, Angela, Mucca, Marion Aubert, Carmichael, Jason, Chassaing, Nicolas, Clark, Robin, Coubes, Christine, Denommé-Pichon, Anne-Sophie, de Dios, John Karl, England, Eleina, Funalot, Benoit, Gerard, Marion, Joseph, Maries, Kennedy, Colleen, Kumps, Camille, Willems, Marjolaine, van de Laar, Ingrid MBH, Aarts-Tesselaar, Coranne, van Slegtenhorst, Marjon, Lehalle, Daphné, Leppig, Kathleen, Lessmeier, Lennart, Pais, Lynn S, Paterson, Heather, Ramanathan, Subhadra, Rodan, Lance H, Superti-Furga, Andrea, Chung, Brian HY, Sherr, Elliott, Netzer, Christian, Schaaf, Christian P, Erger, Florian

المصدر: Journal of Medical Genetics. 59(7)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Brain Disorders, Intellectual and Developmental Disabilities (IDD), Pediatric, Human Genome, Autism, Mental Health, Neurosciences, Clinical Research, Congenital Structural Anomalies, 2.1 Biological and endogenous factors, Aetiology, Mental health, Autism Spectrum Disorder, Child, Humans, Intellectual Disability, Megalencephaly, Neurodevelopmental Disorders, Seizures, Syndrome, Exome Sequencing, human genetics, genetic counselling, genetics, behavioural, mutation, Medical and Health Sciences, Genetics & Heredity, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/8vj1p265

المؤلفون: Wells, Constance F., Boursier, Guilaine, Yauy, Kevin^{Aff1, Aff2, Aff3}, Ruiz-Pallares, Nathalie, Mechin, Déborah, Ruault, Valentin, Tharreau, Mylène, Blanchet, Patricia, Pinson, Lucile, Coubes, Christine, Fila, Marc, Baleine, Julien, Pidoux, Odile, Badr, Maliha, Milesi, Christophe, Cambonie, Gilles, Mesnage, Renaud, Dereure, Maëlle, Ardouin, Olivier, Guignard, Thomas, Geneviève, David, Barat-Houari, Mouna, Willems, Marjolaine^{Aff1, Aff9, Aff10, IDs41431022011337_cor23}

المصدر: European Journal of Human Genetics. 30(9):1076-1082

المؤلفون: Danielsson, A, Carecchio, M, Cif, L, Koy, A, Lin, JP, Solders, G, Romito, L, Lohmann, K, Garavaglia, B, Reale, C, Zorzi, G, Nardocci, N, Coubes, P, Gonzalez, V, Roubertie, A, Collod-Beroud, G, Lind, G, Tedroff, K

المصدر: Journal of clinical medicine. 8(12)

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:142711185

المؤلفون: Tsuboi, Takashi, Cif, Laura, Coubes, Philippe, Ostrem, Jill L, Romero, Danilo A, Miyagi, Yasushi, Lozano, Andres M, De Vloo, Philippe, Haq, Ihtsham, Meng, Fangang, Sharma, Nutan, Ozelius, Laurie J, Shukla, Aparna Wagle, Cauraugh, James H, Foote, Kelly D, Okun, Michael S

مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, Neurosciences, Bioengineering, Rehabilitation, Dystonia, Rare Diseases, Neurodegenerative, Assistive Technology, Clinical Research, DYT1, dystonia, deep brain stimulation, globus pallidus internus, pallidum, Psychology, Cognitive Sciences, Experimental Psychology, Biological psychology, Cognitive and computational psychology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/3gf7r0wd

المؤلفون: Cif, L, Kurian, MA, Gonzalez, V, Garcia-Ptacek, S, Roujeau, T, Gelisse, P, Moura de Ribeiro, AM, Crespel, A, MacPherson, L, Coubes, P

المصدر: Movement disorders clinical practice. 1(2):128-131

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:230363890

المؤلفون: Poulen, G., Rolland, A., Chan-Seng, E., Sanrey, E., Gélisse, P., Crespel, A., Coubes, P.

المصدر: In Revue Neurologique November 2022 178(9):886-895

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المؤلفون: Frédéric Tran Mau-Them, Alexis Overs, Ange-Line Bruel, Romain Duquet, Mylene Thareau, Anne-Sophie Denommé-Pichon, Antonio Vitobello, Arthur Sorlin, Hana Safraou, Sophie Nambot, Julian Delanne, Sebastien Moutton, Caroline Racine, Camille Engel, Melchior De Giraud d’Agay, Daphne Lehalle, Alice Goldenberg, Marjolaine Willems, Christine Coubes, David Genevieve, Alain Verloes, Yline Capri, Laurence Perrin, Marie-Line Jacquemont, Laetitia Lambert, Elodie Lacaze, Julien Thevenon, Nadine Hana, Julien Van-Gils, Charlotte Dubucs, Varoona Bizaoui, Marion Gerard-Blanluet, James Lespinasse, Sandra Mercier, Anne-Marie Guerrot, Isabelle Maystadt, Emilie Tisserant, Laurence Faivre, Christophe Philippe, Yannis Duffourd, Christel Thauvin-Robinet

المصدر: Frontiers in Genetics, Vol 14 (2023)

مصطلحات موضوعية: GREP, intellectual disability, developmental anomalies, genomic database, diagnostic improvement, exome sequencing (ES), Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2023.1122985/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/c14e4795329344a3bad7a62c2a7011bd

المؤلفون: Bell, Scott, Rousseau, Justine, Peng, Huashan, Aouabed, Zahia, Priam, Pierre, Theroux, Jean-Francois, Jefri, Malvin, Tanti, Arnaud, Wu, Hanrong, Kolobova, Ilaria, Silviera, Heika, Manzano-Vargas, Karla, Ehresmann, Sophie, Hamdan, Fadi, Hettige, Nuwan, Zhang, Xin, Antonyan, Lilit, Nassif, Christina, Ghaloul-Gonzalez, Lina, Sebastian, Jessica, Vockley, Jerry, Begtrup, Amber, Wentzensen, Ingrid, Crunk, Amy, Nicholls, Robert, Deignan, Joshua, Al-Hertani, Walla, Efthymiou, Stephanie, Salpietro, Vincenzo, Miyake, Noriko, Makita, Yoshio, Matsumoto, Naomichi, Østern, Rune, Houge, Gunnar, Hafström, Maria, Fassi, Emily, Houlden, Henry, Klein Wassink-Ruiter, Jolien, Nelson, Dominic, Goldstein, Amy, Dabir, Tabib, van Gils, Julien, Bourgeron, Thomas, Delorme, Richard, Cooper, Gregory, Martinez, Jose, Finnila, Candice, Carmant, Lionel, Lortie, Anne, Oegema, Renske, van Gassen, Koen, Mehta, Sarju, Huhle, Dagmar, Abou Jamra, Rami, Martin, Sonja, Brunner, Han, Lindhout, Dick, Au, Margaret, Graham, John, Coubes, Christine, Turecki, Gustavo, Gravel, Simon, Mechawar, Naguib, Rossignol, Elsa, Michaud, Jacques, Lessard, Julie, Ernst, Carl, Campeau, Philippe, Herman, Kristin

المصدر: American Journal of Human Genetics. 104(5)

مصطلحات موضوعية: ACTL6B, genetic engineering, intellectual disability, neurodevelopment, seizure, stem cells, Actins, Adult, Child, Child, Preschool, Chromatin, Chromosomal Proteins, Non-Histone, DNA-Binding Proteins, Dendrites, Epilepsy, Female, Humans, Induced Pluripotent Stem Cells, Infant, Male, Mutation, Neurodevelopmental Disorders, Neurons, Young Adult

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/0m384791