RUGGIERI, MARTINO

RUGGIERI, MARTINO  

MEDICINA CLINICA E SPERIMENTALE  

Risultati 1 - 20 di 528 (tempo di esecuzione: 0.065 secondi).
Titolo Data di pubblicazione Autore(i) File
An 11-year follow-up of neonatal onset bath-induced alternating hemiplegia of childhood in monozygotic twins 1-gen-2012 Incorpora, G; Pavone, P; Cocuzza, M; Praticò, Ad; Polizzi, A; Privitera, M; Pavone, L; Ruggieri, Martino
121 novel mutations revealed by DHPLC analysis of the neurofibromatosis type 1 (NF1) gene in southern Italian NF1 patients 1-gen-2003 A. L., Gabriele; Ruggieri, Martino; G., Peluso; T., Sprovieri; A., Patitucci; A., Magariello; M., Muglia
7q31.32 partial duplication: First report of a child with dysmorphism, autistic spectrum disorder, moderate intellectual disability and, epilepsy. Literature review 1-gen-2019 Pavone, P.; Corsello, G.; Marino, S. D.; Ruggieri, M.; Falsaperla, R.
7q31.32 partial duplication: First report of a child with dysmorphism, autistic spectrum disorder, moderate intellectual disability and, epilepsy. Literature review 1-gen-2019 Pavone, P.; Corsello, G.; Marino, S. D.; Ruggieri, M.; Falsaperla, R.
A case of extreme brain lesion: which pathogenetic mechanism? 1-gen-2003 Pavone, P; Ruggieri, Martino; Rizzo, Renata; Parano, E; Pero, G.
A case of extreme brain lesions: Which pathogenetic mechanism? 1-gen-2003 Pavone, P; Ruggieri, Martino; Rizzo, Renata; Pero, G.
A child with congenital heart disease and situs viscerum inversus 1-gen-2008 Pavone, P; Praticò, Ad; DI GIORGIO, A; Incorpora, G; Ruggieri, Martino
A clinical and molecular study in a child under 1 year of age affected by Neurofibromatosis type 2 1-gen-2007 Al, Gabriele; Ruggieri, Martino; C., Nucifora; A., Patitucci; T., Sprovieri; A., Magariello; R., Mazzei; Fl, Conforti; C., Ungaro; G., DI PALMA; M., Muglia; A., Quattrone
A Complex Brain Malformation Syndrome with Rhombencephalosynapsis, Preaxial Hexadactyly plus Facial and Skull Anomalies 1-gen-2005 Pavone, P; Incorpora, G; Ruggieri, Martino
A novel missense mutation of the NF2 gene in a severely affected boy and his healthy father 1-gen-2007 Al, Gabriele; Ruggieri, Martino; C., Nucifora; A., Patitucci; T., Sprovieri; A., Magariello; R., Mazzei; Fl, Conforti; C., Ungaro; M., Muglia; A., Quattrone
A novel missense mutation of the NF2 gene in a severely affected boy and his healthy father 1-gen-2007 Al, Gabriele; Ruggieri, Martino; C., Nucifora; A., Patitucci; T., Sprovieri; A., Magariello; R., Mazzei; Fl, Conforti; C., Ungaro; M., Muglia; A., Quattronea
A pilot study on neurological manifestations and antibodies against neuronal antigens in children with haematological and other cancers 1-gen-2013 Polizzi, A; Ruggieri, Martino; Amyes, E; Pulvirenti, Alfredo; LA SPINA, M; Clover, L; Vincent, A.
A search for evidence of somatic mutations in the NF1 gene 1-gen-2000 John, Am; Ruggieri, Martino; Ferner, R; Upadhyaya, M.
A sex bias in the origin of new mutations in the NF1 gene: the nature of mutations and their possible molecular mechanisms 1-gen-1997 Upadhyaya, M; Maynard, J; Ruggieri, Martino; Huson, Sm; Ponder, M; Krawczak, M; Ponder, Baj; Cooper, Dn
A Syndrome with Coarse Face, Mental Retardation and Unusual Stereotyped Movements 1-gen-2009 Pavone, P.; Trifiletti, R. R.; Parano, E.; Fichera, Marco; Ruggieri, Martino
Absence of heart abnormalities in subjects not carryng large NF1 gene deletions 1-gen-2005 A. L., Gabriele; Ruggieri, Martino; C., Nucifora; C., Mattia; T., Sprovieri; A., Patitucci; A., Magariello; R., Mazzei; F. L., Conforti; C., Ungaro; G., Distefano; P., Sciacca; R., Falsaperla; M., Muglia; A., Quattrone
Acquired peripheral neuropathy: a report on 20 children. 1-gen-2012 Pavone, P; Praticò, Ad; Ruggieri, Martino; Verrotti, A; Castellano Chiodo, D; Greco, F; Falsaperla, R; Pavone, L.
Acute deep vein thrombosis (DVT) of the lower limbs in a 32-year-old man with chronic hypoplasia of the inferior vena cava (HIVC) without risk factors. 1-gen-2016 Signorelli, Salvatore; Fiore, V; Ruggieri, Martino; Basile, Antonio
Acute disseminated encephalomyelitis: a long-term prospective study and meta-analysis 1-gen-2010 Pavone, P; Pettoello-Mantovano, M; Le Pira, A; Giardino, I; Pulvirenti, A; Giugno, R; Parano, E; Polizzi, A; Distefano, A; Ferro, A; Pavone, L; Ruggieri, M.
Adrenal Disorders and the Paediatric Brain: Pathophysiological Considerations and Clinical Implications. 1-gen-2014 Salpietro, V; Polizzi, A; Di Rosa, G; Romeo, Ac; Dipasquale, V; Morabito, P; Chirico, V; Arrigo, T; Ruggieri, Martino