Pubblicazioni

Duplication at 19q13.32q13.33 Segregating with Neuropsychiatric Phenotype in a Three-Generation Family: Towards the Definition of a Critical Region

2023 - GENES
Guadagnolo, Daniele; Mastromoro, Gioia; Torres, Barbara; Marchionni, Enrica; DI PALMA, Francesca; Goldoni, Marina; Cocciadiferro, Dario; Novelli, Antonio; Bernardini, Laura; Pizzuti, Antonio

Clinical and molecular aspects of the neurodevelopmental disorder associated with PAK3 perturbation

2021 - JOURNAL OF MOLECULAR NEUROSCIENCE
Pascolini, G.; Gaudioso, F.; Passarelli, C.; Novelli, A.; Di Giosaffatte, N.; Majore, S.; Grammatico, P.

Helsmoortel-Van der Aa Syndrome as emerging clinical diagnosis in intellectually disabled children with autistic traits and ocular involvement

2018 - EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
Pascolini, Giulia; Agolini, Emanuele; Majore, Silvia; Novelli, Antonio; Grammatico, Paola; Digilio, Maria Cristina

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