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المؤلفون: Nuno Maia, Nekane Ibarluzea, Mala Misra‐Isrie, Daniel C. Koboldt, Isabel Marques, Gabriela Soares, Rosário Santos, Carlo L. M. Marcelis, Riikka Keski‐Filppula, Miriam Guitart, Elisabeth Gabau Vila, April Lehman, Scott Hickey, Mari Mori, Paulien Terhal, Irene Valenzuela, Amaia Lasa‐Aranzasti, Anna Maria Cueto‐González, Brian H. Chhouk, Rebecca C. Yeh, Jennifer E. Neil, Bassam Abu‐Libde, Tjitske Kleefstra, Mariet W. Elting, Andrea Császár, Judit Kárteszi, Beáta Bessenyei, Hans van Bokhoven, Paula Jorge, Johanna M. van Hagen, Arjan P. M. de Brouwer
المساهمون: Institut Català de la Salut, [Maia N, Marques I] Unidade de Genética Molecular, Centro de Genética Médica Doutor Jacinto de Magãlhaes (CGM), Centro Hospitalar Universitário do Porto (CHUPorto) Unit for Multidisciplinary Research In Biomedicine (UMIB), Institute of Biomedical Sciences Abel Salazar (ICBAS), and ITR - Laboratory for Integrative and Translational Research in Population Health, University of Porto, Porto, Portugal. [Ibarluzea N] Biocruces Bizkaia Health Research Institute, Barakaldo, Spain. [Misra-Isrie M] Department of Human Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands. [Koboldt DC] Steve and Cindy Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA. Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio, USA. [Soares G] Unidade de Genética Médica, Centro de Genética Médica Doutor Jacinto de Magalhaes (CGM), Centro Hospitalar Universitário do Porto (CHUPorto), Porto, Portugal. [Valenzuela I] Servei de Genètica Clínica i Molecular, Vall d'Hebron Hospital Universitari, Barcelona, Spain. Grup de Recerca de Medicina Genètica, Vall d'Hebron Institut de Recerca (VHIR), Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus, Human genetics, Amsterdam Reproduction & Development (AR&D)
المصدر: American Journal of Medical Genetics. Part A, 191, 1, pp. 135-143
Scientia
American Journal of Medical Genetics, Part A, 191(1), 135-143. Wiley-Liss Inc.
Maia, N, Ibarluzea, N, Misra-Isrie, M, Koboldt, D C, Marques, I, Soares, G, Santos, R, Marcelis, C L M, Keski-Filppula, R, Guitart, M, Gabau Vila, E, Lehman, A, Hickey, S, Mori, M, Terhal, P, Valenzuela, I, Lasa-Aranzasti, A, Cueto-González, A M, Chhouk, B H, Yeh, R C, Neil, J E, Abu-Libde, B, Kleefstra, T, Elting, M W, Császár, A, Kárteszi, J, Bessenyei, B, van Bokhoven, H, Jorge, P, van Hagen, J M & de Brouwer, A P M 2023, ' Missense MED12 variants in 22 males with intellectual disability : From nonspecific symptoms to complete syndromes ', American Journal of Medical Genetics, Part A, vol. 191, no. 1, pp. 135-143 . https://doi.org/10.1002/ajmg.a.63004
American Journal of Medical Genetics. Part A, 191, 135-143مصطلحات موضوعية: Discapacitat intel·lectual - Aspectes genètics, Anomalies cromosòmiques, All institutes and research themes of the Radboud University Medical Center, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Otros calificadores::Otros calificadores::/genética [Otros calificadores], Genetics, Other subheadings::Other subheadings::/genetics [Other subheadings], fenómenos genéticos::variación genética::mutación::mutación de sentido erróneo [FENÓMENOS Y PROCESOS], Genetic Phenomena::Genetic Variation::Mutation::Mutation, Missense [PHENOMENA AND PROCESSES], enfermedades del sistema nervioso::manifestaciones neurológicas::manifestaciones neuroconductuales::discapacidad intelectual [ENFERMEDADES], Genetics (clinical), Nervous System Diseases::Neurologic Manifestations::Neurobehavioral Manifestations::Intellectual Disability [DISEASES]
وصف الملف: application/pdf
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المؤلفون: Darius, Ebrahimi-Fakhari, Julian E, Alecu, Marvin, Ziegler, Gregory, Geisel, Catherine, Jordan, Angelica, D'Amore, Rebecca C, Yeh, Shyam K, Akula, Afshin, Saffari, Sanjay P, Prabhu, Mustafa, Sahin, Edward, Yang, Conny M A, van Ravenswaaij-Arts
المصدر: Neurology
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Hereditary spastic paraplegia, business.industry, Spastic Paraplegia, Hereditary, Adaptor Protein Complex 4, Splenium, Anterior commissure, Neuroimaging, Status epilepticus, medicine.disease, Corpus callosum, Magnetic Resonance Imaging, Cerebral palsy, Corpus Callosum, White matter, medicine.anatomical_structure, medicine, Polymicrogyria, Humans, Neurology (clinical), medicine.symptom, business, Research Article
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fcfcacb2aaf18a724159e2e69ac27c77
https://pubmed.ncbi.nlm.nih.gov/34544818 -
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المؤلفون: Connor J. Kenny, Ellen M DeGennaro, Andrew B. Stergachis, Lariza M. Rento, Marc Beaudin, M. Aurel Nagy, Peter P. Wang, Kelly M. Girskis, Taehwan Shin, Michael E. Greenberg, Elizabeth A. Pollina, Peter V. Kharchenko, Ryan N. Doan, Julia L. Scotellaro, Xuyu Qian, Nenad Sestan, Jean Fan, Brian M. Debo, Janet H.T. Song, Dilenny M. Gonzalez, André M. M. Sousa, Rebecca C. Yeh, Christopher A. Walsh, Matthew B. Johnson, Gabrielle M. Sejourne
المصدر: Neuron. 109(20)
مصطلحات موضوعية: Epigenomics, Cell type, Pan troglodytes, General Neuroscience, Ferrets, Brain, Gene Expression Regulation, Developmental, Biology, Cell cycle, Human accelerated regions, Biological Evolution, Evolution, Molecular, Mice, HARS, Animals, Humans, Macaca, Human genome, Gene Regulatory Networks, Epigenetics, Enhancer, Gene, Neuroscience
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec719659af0fbbd154432819136f29cc
https://pubmed.ncbi.nlm.nih.gov/34672980