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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: Bence Ágg, Réka Mizsei, Peter Csermely, Daniel V. Veres, Máté Szalay-Bekő, Péter Ferdinandy, Andrea Császár, István Kovács
المصدر: Bioinformatics
مصطلحات موضوعية: FOS: Computer and information sciences, Statistics and Probability, Computer science, Molecular Networks (q-bio.MN), Computer Vision and Pattern Recognition (cs.CV), Computer Science - Computer Vision and Pattern Recognition, FOS: Physical sciences, computer.software_genre, Biochemistry, 03 medical and health sciences, 0302 clinical medicine, Software, Graph drawing, Plug-in, Quantitative Biology - Molecular Networks, Physics - Biological Physics, Representation (mathematics), Molecular Biology, 030304 developmental biology, 0303 health sciences, business.industry, Systems Biology, Computational Biology, Proteins, Disordered Systems and Neural Networks (cond-mat.dis-nn), Condensed Matter - Disordered Systems and Neural Networks, Applications Notes, Computer Science Applications, Visualization, Computational Mathematics, Computational Theory and Mathematics, Biological Physics (physics.bio-ph), FOS: Biological sciences, Data mining, Signal transduction, business, computer, Algorithms, 030217 neurology & neurosurgery, Protein Binding, Signal Transduction
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4c62b856ba625150253b7114cb3840a
http://arxiv.org/abs/1904.03910 -
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المؤلفون: Edel A. O'Toole, Mariann Tihanyi, Celia Moss, Malcolm H.A. Rustin, Chris Bennett, Philip Bland, Catherine M T Chronnell, Daniel Poon, László Gárdos, Ishwar C. Verma, Daniela Nitoiu, John I. Harper, Saleem M. Taibjee, Nigel Burrows, David P. Kelsell, Diana C. Blaydon, Bernard Conrad, David Bourn, Andrea Császár, Vincent Plagnol, Claire A. Scott
المصدر: The Journal of investigative dermatology. 133(2)
مصطلحات موضوعية: Male, Mutant, Dermatology, Biology, medicine.disease_cause, Biochemistry, DNA sequencing, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, Informed consent, medicine, Humans, Genetic Testing, Gene, Molecular Biology, 030304 developmental biology, Genetics, 0303 health sciences, Mutation, Ichthyosis, High-Throughput Nucleotide Sequencing, Cell Biology, Lamellar ichthyosis, Harlequin Ichthyosis, medicine.disease, 3. Good health, Female
