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Year | Number of Results |
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2020 | 1 |
2021 | 1 |
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Page 1
Unique Features of Cardiovascular Involvement and Progression in Children with Marfan Syndrome Justify Dedicated Multidisciplinary Care.
J Cardiovasc Dev Dis. 2024 Apr 3;11(4):114. doi: 10.3390/jcdd11040114.
J Cardiovasc Dev Dis. 2024.
PMID: 38667733
Free PMC article.
Review.
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. Among authors: panfili a.
Clin Genet. 2024 Jan;105(1):81-86. doi: 10.1111/cge.14414. Epub 2023 Aug 9.
Clin Genet. 2024.
PMID: 37558216
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Variants of uncertain significance (VUS) in cancer predisposing genes: What are we learning from multigene panels?
Lucci-Cordisco E, Amenta S, Panfili A, Del Valle J, Capellá G, Pineda M, Genuardi M.
Lucci-Cordisco E, et al. Among authors: panfili a.
Eur J Med Genet. 2022 Jan;65(1):104400. doi: 10.1016/j.ejmg.2021.104400. Epub 2021 Nov 20.
Eur J Med Genet. 2022.
PMID: 34813939
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Clinical Genetics Can Solve the Pitfalls of Genome-Wide Investigations: Lesson from Mismapping a Loss-of-Function Variant in KANSL1.
Bigoni S, Marangi G, Frangella S, Panfili A, Ognibene D, Squeo GM, Merla G, Zollino M.
Bigoni S, et al. Among authors: panfili a.
Genes (Basel). 2020 Oct 9;11(10):1177. doi: 10.3390/genes11101177.
Genes (Basel). 2020.
PMID: 33050294
Free PMC article.
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