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273 results

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Nevus vascularis mixtus (cutaneous vascular twin nevi) associated with intracranial vascular malformation of the Dyke-Davidoff-Masson type in two patients.
Ruggieri M, Milone P, Pavone P, Falsaperla R, Polizzi A, Caltabiano R, Fichera M, Gabriele AL, Distefano A, De Pasquale R, Salpietro V, Micali G, Pavone L. Ruggieri M, et al. Among authors: falsaperla r. Am J Med Genet A. 2012 Nov;158A(11):2870-80. doi: 10.1002/ajmg.a.35221. Epub 2012 Sep 18. Am J Med Genet A. 2012. PMID: 22991195
Hemihydranencephaly: living with half brain dysfunction.
Pavone P, Nigro F, Falsaperla R, Greco F, Ruggieri M, Rizzo R, Praticò AD, Pavone L. Pavone P, et al. Among authors: falsaperla r. Ital J Pediatr. 2013 Jan 16;39:3. doi: 10.1186/1824-7288-39-3. Ital J Pediatr. 2013. PMID: 23324549 Free PMC article. Review.
Spinal neurofibromatosis with central nervous system involvement in a set of twin girls and a boy: further expansion of the phenotype.
Ruggieri M, Polizzi A, Salpietro V, Incorpora G, Nicita F, Pavone P, Falsaperla R, Nucifora C, Granata F, Distefano A, Padua L, Caltabiano R, Lanzafame S, Gabriele AL, Ortensi A, D'Orazi V, Panunzi A, Milone P, Mankad K, Platania N, Albanese V, Pavone V. Ruggieri M, et al. Among authors: falsaperla r. Neuropediatrics. 2013 Oct;44(5):239-44. doi: 10.1055/s-0033-1343350. Epub 2013 Jun 18. Neuropediatrics. 2013. PMID: 23780384 Review.
West syndrome treatment: new roads for an old syndrome.
Pavone P, Falsaperla R, Ruggieri M, Praticò AD, Pavone L. Pavone P, et al. Among authors: falsaperla r. Front Neurol. 2013 Aug 12;4:113. doi: 10.3389/fneur.2013.00113. eCollection 2013. Front Neurol. 2013. PMID: 23964265 Free PMC article. No abstract available.
Wide spectrum of congenital anomalies including choanal atresia, malformed extremities, and brain and spinal malformations in a girl with a de novo 5.6-Mb deletion of 13q12.11-13q12.13.
Pavone P, Briuglia S, Falsaperla R, Warm A, Pavone V, Bernardini L, Novelli A, Praticò AD, Salpietro V, Ruggieri M. Pavone P, et al. Among authors: falsaperla r. Am J Med Genet A. 2014 Jul;164A(7):1734-43. doi: 10.1002/ajmg.a.36391. Epub 2014 May 7. Am J Med Genet A. 2014. PMID: 24807585 Review.
273 results