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Year | Number of Results |
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2021 | 1 |
2022 | 2 |
2023 | 2 |
2024 | 1 |
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Page 1
Contribution of Genetic Test to Early Diagnosis of Methylenetetrahydrofolate Reductase (MTHFR) Deficiency: The Experience of a Reference Center in Southern Italy.
Genes (Basel). 2023 Apr 26;14(5):980. doi: 10.3390/genes14050980.
Genes (Basel). 2023.
PMID: 37239340
Free PMC article.
Desmosomes in heart and skin: friends or foes?
Caiazzo G, De Simone RR, Monda E, Barretta F, Uomo F, Mazzaccara C, Megna M, Giuseppe L, Frisso G.
Caiazzo G, et al. Among authors: uomo f.
J Transl Med. 2024 Apr 16;22(1):357. doi: 10.1186/s12967-024-05137-3.
J Transl Med. 2024.
PMID: 38627794
Free PMC article.
No abstract available.
Item in Clipboard
Long-term monitoring for short/branched-chain acyl-CoA dehydrogenase deficiency: A single-center 4-year experience and open issues.
Rossi A, Turturo M, Albano L, Fecarotta S, Barretta F, Crisci D, Gallo G, Perfetto R, Uomo F, Vallone F, Villani G, Strisciuglio P, Parenti G, Frisso G, Ruoppolo M.
Rossi A, et al. Among authors: uomo f.
Front Pediatr. 2022 Sep 6;10:895921. doi: 10.3389/fped.2022.895921. eCollection 2022.
Front Pediatr. 2022.
PMID: 36147814
Free PMC article.
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Combined MITOchondrial-NUCLEAR (MITO-NUCLEAR) Analysis for Mitochondrial Diseases Diagnosis: Validation and Implementation of a One-Step NGS Method.
Barretta F, Uomo F, Caldora F, Mocerino R, Adamo D, Testa F, Simonelli F, Scudiero O, Tinto N, Frisso G, Mazzaccara C.
Barretta F, et al. Among authors: uomo f.
Genes (Basel). 2023 May 15;14(5):1087. doi: 10.3390/genes14051087.
Genes (Basel). 2023.
PMID: 37239447
Free PMC article.
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Next-Generation Sequencing Gene Panels in Inheritable Cardiomyopathies and Channelopathies: Prevalence of Pathogenic Variants and Variants of Unknown Significance in Uncommon Genes.
Mazzaccara C, Lombardi R, Mirra B, Barretta F, Esposito MV, Uomo F, Caiazza M, Monda E, Losi MA, Limongelli G, D'Argenio V, Frisso G.
Mazzaccara C, et al. Among authors: uomo f.
Biomolecules. 2022 Oct 3;12(10):1417. doi: 10.3390/biom12101417.
Biomolecules. 2022.
PMID: 36291626
Free PMC article.
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Multidisciplinary In-Depth Investigation in a Young Athlete Suffering from Syncope Caused by Myocardial Bridge.
Brancaccio M, Mennitti C, Cesaro A, Monda E, D'Argenio V, Casaburi G, Mazzaccara C, Ranieri A, Fimiani F, Barretta F, Uomo F, Caiazza M, Lioncino M, D'Alicandro G, Limongelli G, Calabrò P, Terracciano D, Lombardo B, Frisso G, Scudiero O.
Brancaccio M, et al. Among authors: uomo f.
Diagnostics (Basel). 2021 Nov 19;11(11):2144. doi: 10.3390/diagnostics11112144.
Diagnostics (Basel). 2021.
PMID: 34829491
Free PMC article.
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