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19 results

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Page 1
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: lodato v. Genes (Basel). 2022 Dec 14;13(12):2358. doi: 10.3390/genes13122358. Genes (Basel). 2022. PMID: 36553625 Free PMC article.
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility.
Leone MP, Morlino S, Nardella G, Pracella R, Giachino D, Celli L, Baldo D, Turolla L, Piccione M, Salzano E, Busè M, Lastella P, Zollino M, Cantone R, Grosso E, Zonta A, Pasini B, Piscopo C, De Maggio I, Priolo M, Mammi C, Foiadelli T, Trabatti C, Savasta S, Iolascon A, Ferraris A, Lodato V, Di Giosaffatte N, Majore S, Selicorni A, Petracca A, Fusco C, Celli M, Guarnieri V, Micale L, Castori M. Leone MP, et al. Among authors: lodato v. Hum Genet. 2023 Jun;142(6):785-808. doi: 10.1007/s00439-023-02547-z. Epub 2023 Apr 20. Hum Genet. 2023. PMID: 37079061
Ebstein's anomaly in a child with osteogenesis imperfecta type I.
D'Eufemia P, Celli M, Versacci P, Zambrano A, Lodato V, Persiani P, Sangiorgi L. D'Eufemia P, et al. Among authors: lodato v. Clin Cases Miner Bone Metab. 2011 May;8(2):50-1. Clin Cases Miner Bone Metab. 2011. PMID: 22461818 Free PMC article.
Myocardial and Arrhythmic Spectrum of Neuromuscular Disorders in Children.
Baban A, Lodato V, Parlapiano G, di Mambro C, Adorisio R, Bertini ES, Dionisi-Vici C, Drago F, Martinelli D. Baban A, et al. Among authors: lodato v. Biomolecules. 2021 Oct 25;11(11):1578. doi: 10.3390/biom11111578. Biomolecules. 2021. PMID: 34827576 Free PMC article. Review.
Cardiovascular Involvement in Pediatric FLNC Variants: A Case Series of Fourteen Patients.
Baban A, Alesi V, Magliozzi M, Parlapiano G, Genovese S, Cicenia M, Loddo S, Lodato V, Di Chiara L, Fattori F, D'Amico A, Francalanci P, Amodeo A, Novelli A, Drago F. Baban A, et al. Among authors: lodato v. J Cardiovasc Dev Dis. 2022 Sep 30;9(10):332. doi: 10.3390/jcdd9100332. J Cardiovasc Dev Dis. 2022. PMID: 36286284 Free PMC article.
19 results