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Visual function in children with Joubert syndrome.
Morelli F, Toni F, Saligari E, D'Abrusco F, Serpieri V, Ballante E, Ruberto G, Borgatti R, Valente EM, Signorini S; Developmental Neuro-ophthalmology Study Group. Morelli F, et al. Among authors: valente em. Dev Med Child Neurol. 2024 Mar;66(3):379-388. doi: 10.1111/dmcn.15732. Epub 2023 Aug 18. Dev Med Child Neurol. 2024. PMID: 37593819 Review.
Cerebellar Heterotopia: Broadening the Neuroradiological Spectrum of KBG Syndrome.
Carrara A, Mangiarotti C, Pasca L, Politano D, Abrusco FD', Barbero VC, Carpani A, Borgatti R, Pichiecchio A, Valente EM, Romaniello R. Carrara A, et al. Among authors: valente em. Cerebellum. 2024 Feb 9. doi: 10.1007/s12311-024-01661-6. Online ahead of print. Cerebellum. 2024. PMID: 38334877
Identification of bi-allelic LFNG variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3.
Lecca M, Bedeschi MF, Izzi C, Dordoni C, Rinaldi B, Peluso F, Caraffi SG, Prefumo F, Signorelli M, Zanzucchi M, Bione S, Ghigna C, Sassi S, Novelli A, Valente EM, Superti-Furga A, Garavelli L, Errichiello E. Lecca M, et al. Among authors: valente em. Clin Genet. 2023 Aug;104(2):230-237. doi: 10.1111/cge.14336. Epub 2023 Apr 10. Clin Genet. 2023. PMID: 37038048
A young boy with ventricular arrhythmias and thyroid dysgenesis: two genes are not enough?
Franceschi R, Maines E, Bellizzi M, Rivieri F, Bacca A, Filippi A, Valente EM, Plumari M, Soffiati M, Vincenzi M, Teofoli F, Camilot M. Franceschi R, et al. Among authors: valente em. Arch Endocrinol Metab. 2023 Jan 18;67(1):143-149. doi: 10.20945/2359-3997000000546. Epub 2022 Dec 1. Arch Endocrinol Metab. 2023. PMID: 36468928 Free PMC article.
361 results