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Page 1
Lower motor neuron disease with respiratory failure caused by a novel MAPT mutation.
Di Fonzo A, Ronchi D, Gallia F, Cribiù FM, Trezzi I, Vetro A, Della Mina E, Limongelli I, Bellazzi R, Ricca I, Micieli G, Fassone E, Rizzuti M, Bordoni A, Fortunato F, Salani S, Mora G, Corti S, Ceroni M, Bosari S, Zuffardi O, Bresolin N, Nobile-Orazio E, Comi GP. Di Fonzo A, et al. Among authors: bellazzi r. Neurology. 2014 Jun 3;82(22):1990-8. doi: 10.1212/WNL.0000000000000476. Epub 2014 May 7. Neurology. 2014. PMID: 24808015
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform.
Della Mina E, Ciccone R, Brustia F, Bayindir B, Limongelli I, Vetro A, Iascone M, Pezzoli L, Bellazzi R, Perotti G, De Giorgis V, Lunghi S, Coppola G, Orcesi S, Merli P, Savasta S, Veggiotti P, Zuffardi O. Della Mina E, et al. Among authors: bellazzi r. Eur J Hum Genet. 2015 Mar;23(3):354-62. doi: 10.1038/ejhg.2014.92. Epub 2014 May 21. Eur J Hum Genet. 2015. PMID: 24848745 Free PMC article.
BigQ: a NoSQL based framework to handle genomic variants in i2b2.
Gabetta M, Limongelli I, Rizzo E, Riva A, Segagni D, Bellazzi R. Gabetta M, et al. Among authors: bellazzi r. BMC Bioinformatics. 2015 Dec 29;16:415. doi: 10.1186/s12859-015-0861-0. BMC Bioinformatics. 2015. PMID: 26714792 Free PMC article.
A Data Fusion Approach to Enhance Association Study in Epilepsy.
Marini S, Limongelli I, Rizzo E, Malovini A, Errichiello E, Vetro A, Da T, Zuffardi O, Bellazzi R. Marini S, et al. Among authors: bellazzi r. PLoS One. 2016 Dec 16;11(12):e0164940. doi: 10.1371/journal.pone.0164940. eCollection 2016. PLoS One. 2016. PMID: 27984588 Free PMC article.
Novel genetic susceptibility loci for diabetic end-stage renal disease identified through robust naive Bayes classification.
Sambo F, Malovini A, Sandholm N, Stavarachi M, Forsblom C, Mäkinen VP, Harjutsalo V, Lithovius R, Gordin D, Parkkonen M, Saraheimo M, Thorn LM, Tolonen N, Wadén J, He B, Osterholm AM, Tuomilehto J, Lajer M, Salem RM, McKnight AJ; GENIE Consortium; Tarnow L, Panduru NM, Barbarini N, Di Camillo B, Toffolo GM, Tryggvason K, Bellazzi R, Cobelli C; FinnDiane Study Group; Groop PH. Sambo F, et al. Among authors: bellazzi r. Diabetologia. 2014 Aug;57(8):1611-22. doi: 10.1007/s00125-014-3256-2. Epub 2014 May 29. Diabetologia. 2014. PMID: 24871321
360 results