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Erratum to: Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation.
Romaniello R, Arrigoni F, Panzeri E, Poretti A, Micalizzi A, Citterio A, Bedeschi MF, Berardinelli A, Cusmai R, D'Arrigo S, Ferraris A, Hackenberg A, Kuechler A, Mancardi M, Nuovo S, Oehl-Jaschkowitz B, Rossi A, Signorini S, Tüttelmann F, Wahl D, Hehr U, Boltshauser E, Bassi MT, Valente EM, Borgatti R. Romaniello R, et al. Eur Radiol. 2017 Dec;27(12):5093. doi: 10.1007/s00330-017-4986-6. Eur Radiol. 2017. PMID: 28900662 No abstract available.
Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified.
Zucca C, Redaelli F, Epifanio R, Zanotta N, Romeo A, Lodi M, Veggiotti P, Airoldi G, Panzeri C, Romaniello R, De Polo G, Bonanni P, Cardinali S, Baschirotto C, Martorell L, Borgatti R, Bresolin N, Bassi MT. Zucca C, et al. Among authors: romaniello r. Arch Neurol. 2008 Apr;65(4):489-94. doi: 10.1001/archneur.65.4.489. Arch Neurol. 2008. PMID: 18413471 Free article.
Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI.
Poretti A, Vitiello G, Hennekam RC, Arrigoni F, Bertini E, Borgatti R, Brancati F, D'Arrigo S, Faravelli F, Giordano L, Huisman TA, Iannicelli M, Kluger G, Kyllerman M, Landgren M, Lees MM, Pinelli L, Romaniello R, Scheer I, Schwarz CE, Spiegel R, Tibussek D, Valente EM, Boltshauser E. Poretti A, et al. Among authors: romaniello r. Orphanet J Rare Dis. 2012 Jan 11;7:4. doi: 10.1186/1750-1172-7-4. Orphanet J Rare Dis. 2012. PMID: 22236771 Free PMC article.
Electroclinical pattern in MECP2 duplication syndrome: eight new reported cases and review of literature.
Vignoli A, Borgatti R, Peron A, Zucca C, Ballarati L, Bonaglia C, Bellini M, Giordano L, Romaniello R, Bedeschi MF, Epifanio R, Russo S, Caselli R, Giardino D, Darra F, La Briola F, Banderali G, Canevini MP. Vignoli A, et al. Among authors: romaniello r. Epilepsia. 2012 Jul;53(7):1146-55. doi: 10.1111/j.1528-1167.2012.03501.x. Epub 2012 May 11. Epilepsia. 2012. PMID: 22578097 Free article. Review.
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.
Travaglini L, Brancati F, Silhavy J, Iannicelli M, Nickerson E, Elkhartoufi N, Scott E, Spencer E, Gabriel S, Thomas S, Ben-Zeev B, Bertini E, Boltshauser E, Chaouch M, Cilio MR, de Jong MM, Kayserili H, Ogur G, Poretti A, Signorini S, Uziel G, Zaki MS; International JSRD Study Group; Johnson C, Attié-Bitach T, Gleeson JG, Valente EM. Travaglini L, et al. Eur J Hum Genet. 2013 Oct;21(10):1074-8. doi: 10.1038/ejhg.2012.305. Epub 2013 Feb 6. Eur J Hum Genet. 2013. PMID: 23386033 Free PMC article.
107 results