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2023 | 3 |
2024 | 1 |
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Page 1
Pathogenic variants in SOX11 mimicking Pitt-Hopkins syndrome phenotype.
Clin Genet. 2024 Jan;105(1):81-86. doi: 10.1111/cge.14414. Epub 2023 Aug 9.
Clin Genet. 2024.
PMID: 37558216
Triple Genetic Diagnosis in a Patient with Late-Onset Leukodystrophy and Mild Intellectual Disability.
Pasquetti D, Gazzellone A, Rossi S, Orteschi D, L'Erario FF, Concolino P, Minucci A, Dionisi-Vici C, Genuardi M, Silvestri G, Chiurazzi P.
Pasquetti D, et al. Among authors: l erario ff.
Int J Mol Sci. 2023 Dec 29;25(1):495. doi: 10.3390/ijms25010495.
Int J Mol Sci. 2023.
PMID: 38203665
Free PMC article.
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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. Among authors: l erario ff.
Genes (Basel). 2023 Jan 17;14(2):245. doi: 10.3390/genes14020245.
Genes (Basel). 2023.
PMID: 36833170
Free PMC article.
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