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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: V. Sarcona, Nicola Specchio, Pasquale Striano, Elisa Bianchi, Giovanna Randazzo, Maurizio Elia, Erika Rebessi, Giorgia Giussani, Alessandro Ferretti, Alberto Verrotti, Ettore Beghi, Paolo Bonanni
مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, Concordance, Neurodevelopmental disease, Dup15q, Chromosome aberration, Chromosomes, Validity, Diagnosis, Differential, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Intellectual Disability, Intellectual disability, Diagnosis, medicine, Humans, Medical history, Preschool, Child, Genetic testing, Chromosome Aberrations, Chromosomes, Human, Pair 15, Epilepsy, medicine.diagnostic_test, business.industry, Pair 15, Syndrome, General Medicine, medicine.disease, Reliability, Hypotonia, Dud15q syndrome, Neurology, Neurodevelopmental Disorders, Child, Preschool, Differential, Female, Neurology (clinical), Differential diagnosis, medicine.symptom, business, 030217 neurology & neurosurgery, Human
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6a920ff7c05d63126f53a982c69a03bTest
https://hdl.handle.net/11573/1677836Test