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1دورية أكاديمية
المؤلفون: Marina Trivisano, Ambra Butera, Chiara Quintavalle, Angela De Dominicis, Costanza Calabrese, Simona Cappelletti, Federico Vigevano, Antonio Novelli, Nicola Specchio
المصدر: Frontiers in Neuroscience, Vol 17 (2023)
مصطلحات موضوعية: SLC6A1, genetic epilepsy, developmental and epileptic encephalopathy, neuropsychological features, autism spectrum disorder, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fnins.2023.1215684/fullTest; https://doaj.org/toc/1662-453XTest
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المؤلفون: Karen L. Oliver, Marina Trivisano, Simone A. Mandelstam, Angela De Dominicis, David I. Francis, Timothy E. Green, Alison M. Muir, Apoorva Chowdhary, Christoph Hertzberg, Klaus Goldhahn, Julia Metreau, Christine Prager, Jason Pinner, Michael Cardamone, Kenneth A. Myers, Richard J. Leventer, Gaetan Lesca, Melanie Bahlo, Michael S. Hildebrand, Heather C. Mefford, Angela M. Kaindl, Nicola Specchio, Ingrid E. Scheffer
المصدر: Epilepsia. 64:1351-1367
مصطلحات موضوعية: Neurology, Neurology (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::778162645550a6966977db2b3b54f266Test
https://doi.org/10.1111/epi.17542Test -
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المؤلفون: Marina Trivisano, Ambra Butera, Chiara Quintavalle, Angela De Dominicis, Costanza Calabrese, Simona Cappelletti, Federico Vigevano, Antonio Novelli, Nicola Specchio
مصطلحات موضوعية: Neuroscience, Biological Engineering, Developmental Biology, Stem Cells, Artificial Intelligence and Image Processing, Endocrinology, Radiology and Organ Imaging, Autonomic Nervous System, Cellular Nervous System, Central Nervous System, Sensory Systems, Clinical Nursing: Tertiary (Rehabilitative), Decision Making, Rehabilitation Engineering, Biomedical Engineering not elsewhere classified, Signal Processing, Neurogenetics, Image Processing, SLC6A1, genetic epilepsy, developmental and epileptic encephalopathy, neuropsychological features, autism spectrum disorder
الإتاحة: https://doi.org/10.3389/fnins.2023.1215684.s001Test
https://figshare.com/articles/dataset/Table_1_Insights_into_cognitive_and_behavioral_comorbidities_of_SLC6A1-related_epilepsy_five_new_cases_and_literature_review_XLSX/24040989Test -
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المؤلفون: Marina Trivisano, Angela De Dominicis, Alessia Micalizzi, Alessandro Ferretti, Maria Lisa Dentici, Alessandra Terracciano, Costanza Calabrese, Federico Vigevano, Giuseppe Novelli, Antonio Novelli, Nicola Specchio
مصطلحات موضوعية: Male, Developmental and epileptic encephalopathy, Epilepsy, Mediator Complex, Infantile spasms, Autism Spectrum Disorder, General Medicine, West syndrome, MED13 gene, Phenotype, Neurology, Neurodevelopmental disorder, Settore MED/03, Seizures, Intellectual Disability, Mutation, Genetic epilepsy, Microcephaly, Humans, Neurology (clinical), Spasms, Infantile
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a386f9c55a05bfbdff2ede3c0b0a17cTest
https://hdl.handle.net/2108/321972Test -
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المؤلفون: Gaetan Lesca, Tobias Baumgartner, Pauline Monin, Angela De Dominicis, Wolfram S. Kunz, Nicola Specchio
المصدر: European journal of medical genetics. 65(9)
مصطلحات موضوعية: Epilepsy, Exome Sequencing, Genetics, High-Throughput Nucleotide Sequencing, Humans, Genetic Counseling, General Medicine, Genetic Testing, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d014d7a5be6505f85d33c8ee51b9d6a7Test
https://pubmed.ncbi.nlm.nih.gov/35850153Test -
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المؤلفون: Maria Rosaria, D'Apice, Angela, De Dominicis, Michela, Murdocca, Francesca, Amati, Annalisa, Botta, Federica, Sangiuolo, Giovanna, Lattanzi, Massimo, Federici, Giuseppe, Novelli
المصدر: Acta Myologica
مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, prelamin A, integumentary system, Acro-Osteolysis, Lipodystrophy, Mice, Transgenic, Mandible, p.Arg527His pathogenic variant, Lamin Type A, Disease Models, Animal, Mice, transgenic mouse model, Mutation, Animals, Female, Original Article, mandibuloacral dysplasia type A, Skin
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::717f5dd1f4701417969974cc4b05b25fTest
https://pubmed.ncbi.nlm.nih.gov/33458588Test