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المؤلفون: Silke Appenzeller, Rudi Balling, Nina Barisic, Stéphanie Baulac, Hande Caglayan, Dana Craiu, Peter De Jonghe, Christel Depienne, Petia Dimova, Tania Djémié, Padhraig Gormley, Renzo Guerrini, Ingo Helbig, Helle Hjalgrim, Dorota Hoffman-Zacharska, Johanna Jähn, Karl Martin Klein, Bobby Koeleman, Vladimir Komarek, Roland Krause, Gregor Kuhlenbäumer, Eric Leguern, Anna-Elina Lehesjoki, Johannes R. Lemke, Holger Lerche, Tarja Linnankivi, Carla Marini, Patrick May, Rikke S. Møller, Hiltrud Muhle, Deb Pal, Aarno Palotie, Manuela Pendziwiat, Angela Robbiano, Filip Roelens, Felix Rosenow, Kaja Selmer, Jose M. Serratosa, Sanjay Sisodiya, Ulrich Stephani, Katalin Sterbova, Pasquale Striano, Arvid Suls, Tiina Talvik, Sarah von Spiczak, Yvonne Weber, Sarah Weckhuysen, Federico Zara, Bassel Abou-Khalil, Brian K. Alldredge, Eva Andermann, Frederick Andermann, Dina Amrom, Jocelyn F. Bautista, Samuel F. Berkovic, Judith Bluvstein, Alex Boro, Gregory Cascino, Damian Consalvo, Patricia Crumrine, Orrin Devinsky, Dennis Dlugos, Michael P. Epstein, Miguel Fiol, Nathan B. Fountain, Jacqueline French, Daniel Friedman, Eric B. Geller, Tracy Glauser, Simon Glynn, Kevin Haas, Sheryl R. Haut, Jean Hayward, Sandra L. Helmers, Sucheta Joshi, Andres Kanner, Heidi E. Kirsch, Robert C. Knowlton, Eric H. Kossoff, Rachel Kuperman, Ruben Kuzniecky, Daniel H. Lowenstein, Shannon M. McGuire, Paul V. Motika, Edward J. Novotny, Ruth Ottman, Juliann M. Paolicchi, Jack Parent, Kristen Park, Annapurna Poduri, Lynette Sadleir, Ingrid E. Scheffer, Renée A. Shellhaas, Elliott Sherr, Jerry J. Shih, Rani Singh, Joseph Sirven, Michael C. Smith, Joe Sullivan, Liu Lin Thio, Anu Venkat, Eileen P.G. Vining, Gretchen K. Von Allmen, Judith L. Weisenberg, Peter Widdess-Walsh, Melodie R. Winawer, Andrew S. Allen, Patrick Cossette, Norman Delanty, Evan E. Eichler, David B. Goldstein, Yujun Han, Erin L. Heinzen, Michael R. Johnson, Anthony G. Marson, Heather C. Mefford, Sahar Esmaeeli Nieh, Terence J. O’Brien, Stephen Petrou, Slavé Petrovski, Elizabeth K. Ruzzo
المساهمون: Neuroscience Center, Research Programs Unit, Department of Medical and Clinical Genetics, Research Programme for Molecular Neurology, Institute for Molecular Medicine Finland, Genomics of Neurological and Neuropsychiatric Disorders, EuroEPINOMICS-RES Consortium, Epilepsy Phenome Genome Project, Epi4K Consortium
المصدر: The American journal of human genetics
Møller, R S, EuroEPINOMICS RES Consortium, Epilepsy Phenome/Genome Project & Epi4K Consortium 2014, ' De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies ', American Journal of Human Genetics, vol. 95, no. 4, pp. 360-370 . https://doi.org/10.1016/j.ajhg.2014.08.013مصطلحات موضوعية: 0301 basic medicine, Male, Proband, INTELLECTUAL DISABILITY, Type I, Bioinformatics, medicine.disease_cause, Infantile, Synaptic Transmission, Spasms, Cohort Studies, Epilepsy, 0302 clinical medicine, Receptors, SCHIZOPHRENIA, STXBP1, Exome, Gene Regulatory Networks, Protein Interaction Maps, Dynamin I, Genetics (clinical), Genetics, 0303 health sciences, Mutation, education.field_of_study, Medicine (all), Genome project, Fatty Acid Synthase, Type I, Fatty Acid Synthase, Female, APHASIA, Spasms, Infantile, DYNAMIN-1, EPILEPSIES, ENDOCYTOSIS, Population, SPECTRUM DISORDERS, Phenome, Neurotransmission, Biology, GNAO1, Article, 03 medical and health sciences, GRIN2A MUTATIONS, medicine, Humans, AUTISM, Infant, Newborn, Lennox Gastaut Syndrome, Receptors, GABA-B, Ryanodine Receptor Calcium Release Channel, education, Gene, De novo mutations, 030304 developmental biology, GABA-B, 3112 Neurosciences, Infant, Correction, Newborn, medicine.disease, Human genetics, 030104 developmental biology, DNM1, PATTERNS, Human medicine, 030217 neurology & neurosurgery, Lennox–Gastaut syndrome
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