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Cerebellar heterotopia in an 11-year-old child with KDM6B-related neurodevelopmental disorder: A case report and review of the literature.
Politano D, D'Abrusco F, Pasca L, Ferraro F, Gana S, Garau J, Zanaboni MP, Rognone E, Pichiecchio A, Borgatti R, Valente EM, De Giorgis V, Romaniello R. Politano D, et al. Among authors: zanaboni mp. Am J Med Genet A. 2024 Jun;194(6):e63555. doi: 10.1002/ajmg.a.63555. Epub 2024 Feb 7. Am J Med Genet A. 2024. PMID: 38326731 Review.
Overall cognitive profiles in patients with GLUT1 Deficiency Syndrome.
De Giorgis V, Masnada S, Varesio C, Chiappedi MA, Zanaboni M, Pasca L, Filippini M, Macasaet JA, Valente M, Ferraris C, Tagliabue A, Veggiotti P. De Giorgis V, et al. Brain Behav. 2019 Mar;9(3):e01224. doi: 10.1002/brb3.1224. Epub 2019 Feb 4. Brain Behav. 2019. PMID: 30714351 Free PMC article.
Characterization of Speech and Language Phenotype in GLUT1DS.
Zanaboni MP, Pasca L, Villa BV, Faggio A, Grumi S, Provenzi L, Varesio C, De Giorgis V. Zanaboni MP, et al. Children (Basel). 2021 Apr 27;8(5):344. doi: 10.3390/children8050344. Children (Basel). 2021. PMID: 33925679 Free PMC article.
19 results