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Page 1
Facial clues to the photosensitive trichothiodystrophy phenotype in childhood.
J Hum Genet. 2023 Jun;68(6):437-443. doi: 10.1038/s10038-023-01134-4. Epub 2023 Feb 22.
J Hum Genet. 2023.
PMID: 36810639
Clinical and Molecular Aspects of the Neurodevelopmental Disorder Associated with PAK3 Perturbation.
Pascolini G, Gaudioso F, Passarelli C, Novelli A, Di Giosaffatte N, Majore S, Grammatico P.
Pascolini G, et al. Among authors: gaudioso f.
J Mol Neurosci. 2021 Dec;71(12):2474-2481. doi: 10.1007/s12031-021-01868-w. Epub 2021 Jul 5.
J Mol Neurosci. 2021.
PMID: 34227036
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Congenital Defects in a Patient Carrying a Novel Homozygous AEBP1 Variant: Further Expansion of the Phenotypic Spectrum of Ehlers-Danlos Syndrome Classical-like Type 2?
Di Giosaffatte N, Ferraris A, Gaudioso F, Lodato V, Savino E, Celletti C, Camerota F, Bargiacchi S, Laino L, Majore S, Bottillo I, Grammatico P.
Di Giosaffatte N, et al. Among authors: gaudioso f.
Genes (Basel). 2022 Dec 14;13(12):2358. doi: 10.3390/genes13122358.
Genes (Basel). 2022.
PMID: 36553625
Free PMC article.
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Koolen-de Vries syndrome in the first adulthood patient of Southern India ancestry.
Pascolini G, Gaudioso F, Fadda MT, Laino L, Ferraris A, Grammatico P.
Pascolini G, et al. Among authors: gaudioso f.
Am J Med Genet A. 2021 Mar;185(3):978-981. doi: 10.1002/ajmg.a.62006. Epub 2020 Dec 12.
Am J Med Genet A. 2021.
PMID: 33314579
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[Functional tricuspid regurgitation: the increasing clinical importance of the "forgotten valve"].
Taramasso M, Maisano F, Vanermen H, Nisi T, Gaudioso F, Buzzatti N, Pozzoli A, Taramasso L, La Canna G, Alfieri O.
Taramasso M, et al. Among authors: gaudioso f.
Recenti Prog Med. 2012 Oct;103(10):351-8. doi: 10.1701/1171.12976.
Recenti Prog Med. 2012.
PMID: 23114397
Italian.
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