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BRUNETTI PIERRI, NICOLA

BRUNETTI PIERRI, NICOLA  

DIPARTIMENTO DI SCIENZE MEDICHE TRASLAZIONALI  

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Titolo Tipologia Data di pubblicazione Autore(i) File
Severe respiratory impairment in a patient affected by spondyloepiphyseal dysplasia congenital. 1.1 Articolo in rivista 2007 De Brasi, D; BRUNETTI PIERRI, Nicola; Giordano, L; Scala, Mg; Santamaria, Francesca; Andria, G.
Inborn error of metabolism 2.1 Contributo in volume (Capitolo o Saggio) 2011 BRUNETTI PIERRI, Nicola; Parenti, Giancarlo; Andria, Generoso
A new patient with Lowry-Wood syndrome with mild phenotype 1.1 Articolo in rivista 2003 BRUNETTI PIERRI, Nicola; De Brasi, D; Ikegawa, S; Camera, G; Andria, G; Sebastio, G.
Short-Term Correction of Arginase Deficiency in a Neonatal Murine Model with a Helper-Dependent Adenoviral Vector. 1.1 Articolo in rivista 2009 Gau, C. L.; Rosenblatt, Ra; Cerullo, V; Lay, Fd; Dow, Ac; Livesay, J; BRUNETTI PIERRI, Nicola; Lee, B; Cederbaum, S; Grody, W; Lipshutz, G. S.
Gene therapy for inborn errors of liver metabolism: progress towards clinical applications. 1.1 Articolo in rivista 2008 BRUNETTI PIERRI, Nicola
Phenotypic Correction of Ornithine Transcarbamylase Deficiency Using Low Dose Helper Dependent Adenoviral Vectors. 1.1 Articolo in rivista 2008 BRUNETTI PIERRI, Nicola; Clarke, C; Mane, V; Palmer, Dj; Lanpher, B; Sun, Q; O’Brien, W. Lee B.
X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability 1.1 Articolo in rivista 2003 BRUNETTI PIERRI, Nicola; Andreucci, M. V.; Tuzzi, R.; Vega, G. R.; Gray, G.; Mckeown, C; Ballabio, Andrea; Andria, Generoso; Meroni, G.; Parenti, G.
Discovery of drug mode of action and drug repositioning from transcriptional responses 1.1 Articolo in rivista 2010 Iorio, F; Bosotti, R; Scacheri, E; Belcastro, V; Mithbaokar, P; Ferriero, R; Murino, L; Tagliaferri, R; BRUNETTI PIERRI, Nicola; Isacchi, A; DI BERNARDO, Diego
Inborn errors of metabolism: the flux from Mendelian to complex diseases. 1.1 Articolo in rivista 2006 Lanpher, B; BRUNETTI PIERRI, Nicola; Lee, B.
Progress towards liver and lung-directed gene therapy with helper-dependent adenoviral vectors. 1.1 Articolo in rivista 2009 BRUNETTI PIERRI, Nicola; Philip, Ng
Parkes Weber syndrome occurring in a family with Capillary Malformations 1.1 Articolo in rivista 2007 BRUNETTI PIERRI, Nicola; Seidel, Fg; Levy, Ml; Sutton, Vr
Cerebellar vermis aplasia: Patient report and exclusion of the candidate genes EN2 and ZIC1. 1.1 Articolo in rivista 2005 Titomanlio, L; BRUNETTI PIERRI, Nicola; Romano, A; Imperati, F; Borrelli, M; Barletta, V; Alvaro, Ad; Castaldo, I; Santoro, L; DEL GIUDICE, Ennio
von Voss-Cherstvoy syndrome with transient thrombocytopenia and normal psychomotor development. 1.1 Articolo in rivista 2004 BRUNETTI PIERRI, Nicola; Mendoza Londono, R; Shah, Mr; Karaviti, L; Lee, B.
Inappropriate tall stature and renal ectopy in a male patient with X-linked congenital adrenal hypoplasia due to a novel missense mutation in the DAX-1 gene. 1.1 Articolo in rivista 2005 Franzese, A; BRUNETTI PIERRI, Nicola; Spadaro, R; Mukai, T; Valerio, G.
Terminal osseous dysplasia with pigmentary defects (TODPD): Follow-up of the first reported family, characterization of the radiological phenotype, and refinement of the linkage region. 1.1 Articolo in rivista 2010 BRUNETTI PIERRI, Nicola; Lachman, R; Lee, K; Leal, Sm; Piccolo, P; Van Den Veyver, Ib; Bacino, Ca
Vasoactive intestinal peptide increases hepatic transduction and reduces innate immune response following administration of helper-dependent Ad. 1.1 Articolo in rivista 2010 Vetrini, F; BRUNETTI PIERRI, Nicola; Palmer, Dj; Bertin, T; Grove, Nc; Finegold, Mj; Ng, P.
De Novo Terminal 22q12.3q13.3 Duplication with Pituitary Hypoplasia. 1.1 Articolo in rivista 2009 BRUNETTI PIERRI, Nicola; Patel, A; Brown, Cw; Rauch, Ra; Heptulla, R. A.
Progressive Myopathy with Multiple Symmetric Lipomatosis. 1.1 Articolo in rivista 2009 BRUNETTI PIERRI, Nicola; Shaibani, A; Zhang, S; Wong, L; Shinawi, M.
Clinical consequences of urea cycle enzyme deficiencies and potential links to arginine and nitric oxide metabolism. 1.1 Articolo in rivista 2004 Scaglia, F; BRUNETTI PIERRI, Nicola; Kleppe, S; Marini, J; Carter, S; Garlick, P; Jahoor, F; O'Brien, W; Lee, B.
Improved Hepatic Transduction, Reduced Systemic Vector Dissemination and Long-Term Transgene Expression by Delivering Helper-Dependent Adenoviral Vectors into the Surgically Isolated Liver of Nonhuman Primates. 1.1 Articolo in rivista 2006 BRUNETTI PIERRI, Nicola; Ng, T; Iannitti, Da; Palmer, Dj; Beaudet, Al; Finegold, Mj; Dee, C; Cioffi, W; Ng, P.