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Targeted re-sequencing in malformations of cortical development: genotype-phenotype correlations.
Accogli A, Severino M, Riva A, Madia F, Balagura G, Iacomino M, Carlini B, Baldassari S, Giacomini T, Croci C, Pisciotta L, Messana T, Boni A, Russo A, Bilo L, Tonziello R, Coppola A, Filla A, Mecarelli O, Casalone R, Pisani F, Falsaperla R, Marino S, Parisi P, Ferretti A, Elia M, Luchetti A, Milani D, Vanadia F, Silvestri L, Rebessi E, Parente E, Vatti G, Mancardi MM, Nobili L, Capra V, Salpietro V, Striano P, Zara F. Accogli A, et al. Among authors: milani d. Seizure. 2020 Aug;80:145-152. doi: 10.1016/j.seizure.2020.05.023. Epub 2020 Jun 3. Seizure. 2020. PMID: 32570172 Free article.
Hepatoblastoma in Rubinstein-Taybi Syndrome: A Case Report.
Milani D, Bonarrigo FA, Menni F, Spaccini L, Gervasini C, Esposito S. Milani D, et al. Pediatr Blood Cancer. 2016 Mar;63(3):572-3. doi: 10.1002/pbc.25806. Epub 2015 Oct 20. Pediatr Blood Cancer. 2016. PMID: 26485669 No abstract available.
Electroclinical phenotype in Rubinstein-Taybi syndrome.
Giacobbe A, Ajmone PF, Milani D, Avignone S, Triulzi F, Gervasini C, Menni F, Monti F, Biffi D, Canavesi K, Costantino MA. Giacobbe A, et al. Among authors: milani d. Brain Dev. 2016 Jun;38(6):563-70. doi: 10.1016/j.braindev.2015.12.003. Epub 2016 Feb 8. Brain Dev. 2016. PMID: 26867510
Recommendations of the Scientific Committee of the Italian Beckwith-Wiedemann Syndrome Association on the diagnosis, management and follow-up of the syndrome.
Mussa A, Di Candia S, Russo S, Catania S, De Pellegrin M, Di Luzio L, Ferrari M, Tortora C, Meazzini MC, Brusati R, Milani D, Zampino G, Montirosso R, Riccio A, Selicorni A, Cocchi G, Ferrero GB. Mussa A, et al. Among authors: milani d. Eur J Med Genet. 2016 Jan;59(1):52-64. doi: 10.1016/j.ejmg.2015.11.008. Epub 2015 Nov 22. Eur J Med Genet. 2016. PMID: 26592461 Review.
Fragile X syndrome: a review of clinical and molecular diagnoses.
Ciaccio C, Fontana L, Milani D, Tabano S, Miozzo M, Esposito S. Ciaccio C, et al. Among authors: milani d. Ital J Pediatr. 2017 Apr 19;43(1):39. doi: 10.1186/s13052-017-0355-y. Ital J Pediatr. 2017. PMID: 28420439 Free PMC article. Review.
352 results