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1دورية أكاديمية
المؤلفون: Arianna Maiorana, Stefania Caviglia, Benedetta Greco, Paolo Alfieri, Francesca Cumbo, Carmen Campana, Silvia Maria Bernabei, Raffaella Cusmai, Antonella Mosca, Carlo Dionisi-Vici
المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)
مصطلحات موضوعية: Hyperinsulinemic hypoglycemia, Ketogenic diet, Hypoglycemia, Neurodevelopment, Cognitive outcome, Epilepsy, Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1750-1172
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2دورية أكاديمية
المؤلفون: Paolo Alfieri, Marina Macchiaiolo, Martina Collotta, Federica Alice Maria Montanaro, Cristina Caciolo, Francesca Cumbo, Paolo Galassi, Filippo Maria Panfili, Fabiana Cortellessa, Marcella Zollino, Maria Accadia, Marco Seri, Marco Tartaglia, Andrea Bartuli, Corrado Mammì, Stefano Vicari, Manuela Priolo
المصدر: Journal of Clinical Medicine, Vol 11, Iss 14, p 4078 (2022)
مصطلحات موضوعية: Malan Syndrome, NFIX variants, adaptive behavior, cognition, sensory processing, intellectual disability, Medicine
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Giulia Lazzaro, Cristina Caciolo, Deny Menghini, Francesca Cumbo, Maria C. Digilio, Rossella Capolino, Giuseppe Zampino, Marco Tartaglia, Stefano Vicari, Paolo Alfieri
المصدر: Molecular Genetics & Genomic Medicine, Vol 8, Iss 4, Pp n/a-n/a (2020)
مصطلحات موضوعية: IQ, Linguistic functioning, PTPN11, RASopathies, SLI, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2324-9269
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4دورية أكاديمية
المؤلفون: Paolo Alfieri, Cristina Caciolo, Giulia Lazzaro, Deny Menghini, Francesca Cumbo, Maria Lisa Dentici, Maria Cristina Digilio, Maria Gnazzo, Francesco Demaria, Virginia Pironi, Giuseppe Zampino, Antonio Novelli, Marco Tartaglia, Stefano Vicari
المصدر: Journal of Clinical Medicine, Vol 10, Iss 7, p 1523 (2021)
مصطلحات موضوعية: ANKRD11, 16q24.3, cognitive abilities, adaptive functioning, intellectual disabilities, Medicine
وصف الملف: electronic resource
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5دورية أكاديمية
المؤلفون: Paolo Alfieri, Francesca Cumbo, Giulia Serra, Monia Trasolini, Camilla Frattini, Francesco Scibelli, Serena Licchelli, Flavia Cirillo, Cristina Caciolo, Maria Pia Casini, Adele D’Amico, Marco Tartaglia, Maria Cristina Digilio, Rossella Capolino, Stefano Vicari
المصدر: Brain Sciences, Vol 11, Iss 2, p 233 (2021)
مصطلحات موضوعية: psychopathological features, attention deficit and hyperactivity disorder, deficient emotional self-regulation, irritability, anxiety traits, mood, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
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6دورية أكاديمية
المؤلفون: Maria Lisa Dentici, Paola Bergonzini, Francesco Scibelli, Cristina Caciolo, Paola De Rose, Francesca Cumbo, Viola Alesi, Rossella Capolino, Ginevra Zanni, Lorenzo Sinibaldi, Antonio Novelli, Marco Tartaglia, Maria Cristina Digilio, Bruno Dallapiccola, Stefano Vicari, Paolo Alfieri
المصدر: Brain Sciences, Vol 10, Iss 11, p 839 (2020)
مصطلحات موضوعية: dup7q11.23, duplication, Williams–Beuren Syndrome, anxiety disorder, intellectual disability, congenital anomalies, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
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7
المؤلفون: Michele Tosi, Francesca Cumbo, Michela Catteruccia, Adelina Carlesi, Irene Mizzoni, Giacomo De Luca, Claudio Cherchi, Renato Cutrera, Enrico Bertini, Adele D'Amico
المصدر: European Journal of Paediatric Neurology. 43:36-43
مصطلحات موضوعية: Pediatrics, Perinatology and Child Health, Neurology (clinical), General Medicine
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8
المؤلفون: Francesca Cumbo, Michele Tosi, Michela Catteruccia, Daria Diodato, Francesco Nicita, Teresa Grimaldi Capitello, Paolo Alfieri, Stefano Vicari, Enrico Bertini, Adele D'Amico
المصدر: Neuromuscular Disorders. 32:736-742
مصطلحات موضوعية: Dystrophin, Muscular Dystrophy, Duchenne, Cognition, Cross-Sectional Studies, Adolescent, Neurology, Pediatrics, Perinatology and Child Health, Humans, Neurology (clinical), Neuropsychological Tests, Child, Genetics (clinical)
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9
المؤلفون: Francesco Nicita, Fabrizia Stregapede, Federica Deodato, Simone Pizzi, Simone Martinelli, Daria Pagliara, Chiara Aiello, Francesca Cumbo, Fiorella Piemonte, Jessica D’Amico, Stefano Pro, Daniela Longo, Silvia Genovese, Marco Tartaglia, Maria L. Escolar, Enrico Bertini, Lorena Travaglini
المصدر: European Journal of Human Genetics. 30:984-988
مصطلحات موضوعية: Phenotype, Siblings, Mutation, Genetics, Humans, Introns, Genetics (clinical), Galactosylceramidase, Leukodystrophy, Globoid Cell
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10
المؤلفون: Paola Sabrina Buonuomo, Gerarda Mastrogiorgio, Paolo Alfieri, Alessandra Terracciano, Claudia Cesario, Ippolita Rana, Marina Macchiaiolo, Michaela Veronika Gonfiantini, Davide Vecchio, Maria Cristina Digilio, Maria Lisa Dentici, Francesca Cumbo, Antonio Novelli, Andrea Bartuli
المصدر: Clinical Dysmorphology. 31:74-78
مصطلحات موضوعية: Phenotype, Neurodevelopmental Disorders, Pediatrics, Perinatology and Child Health, Humans, General Medicine, Anatomy, Genetics (clinical), Pathology and Forensic Medicine
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cdd68d3b691699022308a11ec1732cbf
https://doi.org/10.1097/mcd.0000000000000408