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Journal of Clinical Medicine|April 30, 2021
Cognitive and Adaptive Characterization of Children and Adolescents with KBG Syndrome: An Explorative StudyPaolo Alfieri, Cristina Caciolo, Giulia Lazzaro, et al.Brain Sciences|March 6, 2021
Manic and Depressive Symptoms in Children Diagnosed with Noonan SyndromePaolo Alfieri, Francesca Cumbo, Giulia Serra, et al.Brain Sciences|November 14, 2020
7q11.23 Microduplication Syndrome: Clinical and Neurobehavioral ProfilingMaria Lisa Dentici, Paola Bergonzini, Francesco Scibelli, et al.European Journal of Human Genetics : EJHG|May 17, 2022
"Atypical" Krabbe disease in two siblings harboring biallelic GALC mutations including a deep intronic variantFrancesco Nicita, Fabrizia Stregapede, Federica Deodato, et al.Journal of Clinical Medicine|July 27, 2022
Characterization of Cognitive, Language and Adaptive Profiles of Children and Adolescents with Malan SyndromePaolo Alfieri, Marina Macchiaiolo, Martina Collotta, et al.Archives of Disease in Childhood|January 30, 2024
Communicative development inventory in type 1 and presymptomatic infants with spinal muscular atrophy: a cohort studyBianca Buchignani, Gianpaolo Cicala, Francesca Cumbo, et al.European Journal of Pediatrics|June 9, 2025
Italian validation of the SMA independence scale-upper limb moduleChiara Bravetti, Giorgia Coratti, Maria Carmela Pera, et al.Pageof 2