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Page 1
Screening of subtelomeric rearrangements in autistic disorder: identification of a partial trisomy of 13q34 in a patient bearing a 13q;21p translocation.
Di Bella MA, Calì F, Seidita G, Mirisola M, Ragusa A, Ragalmuto A, Galesi O, Elia M, Greco D, Zingale M, Gambino G, D'Anna RP, Regan R, Carbone MC, Gallo A, Romano V. Di Bella MA, et al. Among authors: romano v. Am J Med Genet B Neuropsychiatr Genet. 2006 Sep 5;141B(6):584-90. doi: 10.1002/ajmg.b.30328. Am J Med Genet B Neuropsychiatr Genet. 2006. PMID: 16823807
Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform.
Calì F, Chiavetta V, Ruggeri G, Piccione M, Selicorni A, Palazzo D, Bonsignore M, Cereda A, Elia M, Failla P, Figura MG, Fiumara A, Maitz S, Luana Mandarà GM, Mattina T, Ragalmuto A, Romano C, Ruggieri M, Salluzzo R, Saporoso A, Schepis C, Sorge G, Spanò M, Tortorella G, Romano V. Calì F, et al. Among authors: romano c, romano v. Eur J Med Genet. 2017 Feb;60(2):93-99. doi: 10.1016/j.ejmg.2016.11.001. Epub 2016 Nov 9. Eur J Med Genet. 2017. PMID: 27838393
Novel deletion of the E3A ubiquitin protein ligase gene detected by multiplex ligation-dependent probe amplification in a patient with Angelman syndrome.
Cali F, Ragalmuto A, Chiavetta V, Calabrese G, Fichera M, Vinci M, Ruggeri G, Schinocca P, Sturnio M, Romano S, Romano V, Elia M. Cali F, et al. Among authors: romano s, romano v. Exp Mol Med. 2010 Dec 31;42(12):842-8. doi: 10.3858/emm.2010.42.12.087. Exp Mol Med. 2010. PMID: 21072004 Free PMC article.
Carrier screening for spinal muscular atrophy in Italian population.
Calì F, Ruggeri G, Chiavetta V, Scuderi C, Bianca S, Barone C, Ragalmuto A, Schinocca P, Vitello GA, Romano V, Musumeci S. Calì F, et al. Among authors: romano v. J Genet. 2014 Apr;93(1):179-81. doi: 10.1007/s12041-014-0323-x. J Genet. 2014. PMID: 24840836 No abstract available.
704 results