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Pitfalls of whole exome sequencing in undefined clinical conditions with a suspected genetic etiology.
Moresco G, Rondinone O, Mauri A, Costanza J, Santaniello C, Colapietro P, Micaglio E, Marfia G, Pesenti C, Grilli F, Rinaldi B, Prada E, Scuvera G, Villa R, Bedeschi MF, Miozzo MR, Milani D, Fontana L. Moresco G, et al. Among authors: micaglio e. Genes Genomics. 2023 May;45(5):637-655. doi: 10.1007/s13258-022-01341-x. Epub 2022 Dec 1. Genes Genomics. 2023. PMID: 36454368
Brugada Syndrome: Oligogenic or Mendelian Disease?
Monasky MM, Micaglio E, Ciconte G, Pappone C. Monasky MM, et al. Among authors: micaglio e. Int J Mol Sci. 2020 Mar 1;21(5):1687. doi: 10.3390/ijms21051687. Int J Mol Sci. 2020. PMID: 32121523 Free PMC article. Review.
Novel SCN5A p.Val1667Asp Missense Variant Segregation and Characterization in a Family with Severe Brugada Syndrome and Multiple Sudden Deaths.
Monasky MM, Micaglio E, Ciconte G, Rivolta I, Borrelli V, Ghiroldi A, D'Imperio S, Binda A, Melgari D, Benedetti S, Mitrovic P, Anastasia L, Mecarocci V, Ćalović Ž, Casari G, Pappone C. Monasky MM, et al. Among authors: micaglio e. Int J Mol Sci. 2021 Apr 29;22(9):4700. doi: 10.3390/ijms22094700. Int J Mol Sci. 2021. PMID: 33946750 Free PMC article.
Case Report: Efficacy of Rituximab in a Patient With Familial Mediterranean Fever and Multiple Sclerosis.
Pozzato M, Micaglio E, Starvaggi Cucuzza C, Cagol A, Galimberti D, Calandrella D, Cinnante C, Pappone C, Zanussi M, Meola G, Scarpini E, Bresolin N, Martinelli Boneschi F. Pozzato M, et al. Among authors: micaglio e. Front Neurol. 2021 Jan 6;11:591395. doi: 10.3389/fneur.2020.591395. eCollection 2020. Front Neurol. 2021. PMID: 33584496 Free PMC article.
53 results