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Pathogenic variants in SOX11 mimicking Pitt-Hopkins syndrome phenotype.
Pasquetti D, L'Erario FF, Marangi G, Panfili A, Chiurazzi P, Sonnini E, Orteschi D, Alfieri P; TUDP Study Group; Morleo M, Nigro V, Zollino M. Pasquetti D, et al. Clin Genet. 2024 Jan;105(1):81-86. doi: 10.1111/cge.14414. Epub 2023 Aug 9. Clin Genet. 2024. PMID: 37558216
Linear Diagnostic Procedure Elicited by Clinical Genetics and Validated by mRNA Analysis in Neuronal Ceroid Lipofuscinosis 7 Associated with a Novel Non-Canonical Splice Site Variant in MFSD8.
Pasquetti D, Marangi G, Orteschi D, Carapelle M, L'Erario FF, Venditti R, Maietta S, Battaglia DI, Contaldo I, Veredice C, Zollino M. Pasquetti D, et al. Genes (Basel). 2023 Jan 17;14(2):245. doi: 10.3390/genes14020245. Genes (Basel). 2023. PMID: 36833170 Free PMC article.
[Chemotherapy and digestive disorders].
Audibert R, Chambon MC, Desfemmes C, Mahsoume S, Mendel M, Negroni C, Pasquetti D, Robert C, Spiteri M, Fofana N. Audibert R, et al. Among authors: pasquetti d. Soins. 1991 Jul-Aug;(550-551):47-54. Soins. 1991. PMID: 1957208 French. No abstract available.