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335 results

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Page 1
Uncovering a Genetic Diagnosis in a Pediatric Patient by Whole Exome Sequencing: A Modeling Investigation in Wiedemann-Steiner Syndrome.
di Bari I, Ceccarini C, Curcetti M, Cesarano C, Croce AI, Adipietro I, Gallicchio MG, Palladino GP, Patrizio MP, Frisoli B, Santacroce R, D'Apolito M, D'Andrea G, Castriota OM, Pierri CL, Margaglione M. di Bari I, et al. Among authors: margaglione m. Genes (Basel). 2024 Sep 1;15(9):1155. doi: 10.3390/genes15091155. Genes (Basel). 2024. PMID: 39336746 Free PMC article.
The Role of Genetics in the Management of Heart Failure Patients.
Palmieri G, D'Ambrosio MF, Correale M, Brunetti ND, Santacroce R, Iacoviello M, Margaglione M. Palmieri G, et al. Among authors: margaglione m. Int J Mol Sci. 2023 Oct 16;24(20):15221. doi: 10.3390/ijms242015221. Int J Mol Sci. 2023. PMID: 37894902 Free PMC article. Review.
De Novo p.Asp3368Gly Variant of Dystrophin Gene Associated with X-Linked Dilated Cardiomyopathy and Skeletal Myopathy: Clinical Features and In Silico Analysis.
d'Apolito M, Ranaldi A, Santoro F, Cannito S, Gravina M, Santacroce R, Ragnatela I, Margaglione A, D'Andrea G, Casavecchia G, Brunetti ND, Margaglione M. d'Apolito M, et al. Among authors: margaglione m. Int J Mol Sci. 2024 Feb 28;25(5):2787. doi: 10.3390/ijms25052787. Int J Mol Sci. 2024. PMID: 38474032 Free PMC article.
A Report on a Targeted Screening Population for Alpha-1-Antitrypsin Deficiency (AATD) in Central-Southern Italy.
Scioscia G, Santacroce R, Tondo P, Hoxhallari A, Soccio P, Giuffreda E, D'Ambrosio MF, Leccese A, Paladini L, Natale MP, Moriondo G, Foschino Barbaro MP, Margaglione M, Lacedonia D. Scioscia G, et al. Among authors: margaglione m. Arch Bronconeumol. 2024 Sep;60(9):595-597. doi: 10.1016/j.arbres.2024.05.031. Epub 2024 May 31. Arch Bronconeumol. 2024. PMID: 38876920 English, Spanish. No abstract available.
IDEAL study: A real-world assessment of pattern of use and clinical outcomes with recombinant coagulation factor IX albumin fusion protein (rIX-FP) in patients with haemophilia B in Italy.
Tagliaferri A, Molinari AC, Peyvandi F, Coppola A, Demartis F, Biasoli C, Borchiellini A, Cultrera D, De Cristofaro R, Daniele F, Giordano P, Marchesini E, Margaglione M, Marino R, Pollio B, Radossi P, Santoro C, Santoro RC, Siragusa S, Sottilotta G, Tosetto A, Piscitelli L, Villa MR, Zanon E, Finardi A, Schiavetti I, Vaccari D, Castaman G. Tagliaferri A, et al. Among authors: margaglione m. Haemophilia. 2023 Jan;29(1):135-144. doi: 10.1111/hae.14689. Epub 2022 Nov 24. Haemophilia. 2023. PMID: 36423202 Free PMC article.
Real-world experience of rIX-FP prophylaxis at dosing intervals of 14 days or more in adult patients with haemophilia B in Italy - Results from IDEAL Part B.
Coppola A, Peyvandi F, Banov L, Cultrera D, Margaglione M, Tosetto A, Valdrè L, Schiavetti I, Loraschi A, Castaman G; Ideal Study Group. Coppola A, et al. Among authors: margaglione m. Haemophilia. 2024 Jul;30(4):1067-1070. doi: 10.1111/hae.15074. Epub 2024 Jun 20. Haemophilia. 2024. PMID: 39014893 Free article. No abstract available.
335 results