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Mostrati risultati da 61 a 80 di 91
Titolo Data di pubblicazione Autore(i) File
Vacuolar Protein Sorting Genes in Parkinson's Disease: A Re-appraisal of Mutations Detection Rate and Neurobiology of Disease 1-gen-2016 Gambardella, S; Biagioni, F; Ferese, R; Busceti, Cl; Frati, A; Novelli, G; R, ; Fornai, F
A New Splicing Mutation in the L1CAM Gene Responsible for X-Linked Hydrocephalus (HSAS) 1-gen-2016 Ferese, R; Zampatti, S; Griguoli, Amp; Fornai, F; Giardina, E; Barrano, G; Albano, V; Campopiano, R; Scala, S; Novelli, G; Gambardella, S
Two molecular assays for the rapid and inexpensive detection of GJB2 and GJB6 mutations 1-gen-2016 Cascella, R; Strafella, C; Gambardella, S; Longo, G; Borgiani, P; Sangiuolo, F; Novelli, G; Giardina, E
The Autophagoproteasome a Novel Cell Clearing Organelle in Baseline and Stimulated Conditions 1-gen-2016 Lenzi, P; Lazzeri, G; Biagioni, F; Busceti, Cl; Gambardella, S; Salvetti, A; Fornai, F
Direct PCR: a new pharmacogenetic approach for the inexpensive testing of HLA-B*57:01 1-gen-2015 Cascella, R; Strafella, C; Ragazzo, M; Zampatti, S; Borgiani, P; Gambardella, S; Pirazzoli, A; Novelli, G; Giardina, E
Four copies of SNCA responsible of autosomal dominant Parkinson's disease in two Italian siblings 1-gen-2015 Modugno, N; Ferese, R; Campopiano, R; Zampatti, S; Giardina, E; Santilli, M; Nardone, A; Postorivo, D; Ruggieri, S; Fornai, F; Novelli, G; Gambardella, S
Four Copies of SNCA Responsible for Autosomal Dominant Parkinson's Disease in Two Italian Siblings 1-gen-2015 Ferese, R; Modugno, N; Campopiano, R; Santilli, M; Zampatti, S; Giardina, E; Nardone, A; Postorivo, D; Fornai, F; Novelli, G; Romoli, E; Ruggieri, S; Gambardella, S
The Etiology of Acute Recurrent Pancreatitis in Children A Challenge for Pediatricians 1-gen-2011 Lucidi, V; Alghisi, F; Dall'Oglio, L; D'Apice, Mr; Monti, L; De Angelis, P; Gambardella, S; Angioni, A; Novelli, G
Novel mutations of TCOF1 gene in European patients with treacher Collins syndrome 1-gen-2011 Conte, C; D'Apice, Mr; Rinaldi, F; Gambardella, S; Sangiuolo, F; Novelli, G
Bone marrow and umbilical cord blood human mesenchymal stem cells: state of the art 1-gen-2010 Malgieri, A; Kantzari, E; Patrizi, Mp; Gambardella, S
Overexpression of microRNA-206 in the skeletal muscle from myotonic dystrophy type 1 patients 1-gen-2010 Gambardella, S; Rinaldi, F; Lepore, Sm; Viola, A; Loro, E; Angelini, C; Vergani, L; Novelli, G; Botta, A
A fluorescence-based sequence-specific primer PCR for the screening of HLA-B*57:01 1-gen-2010 Giardina, E; Stocchi, L; Cuzzola, Vf; Zampatti, S; Gambardella, S; Patrizi, Mp; Bramanti, P; Pirazzoli, A; Novelli, G
Design, Construction and Validation of Targeted BAC Array-Based CGH Test for Detecting the Most Commons Chromosomal Abnormalities 1-gen-2010 Gambardella, S; Ciabattoni, E; Motta, F; Stoico, G; Gullotta, F; Biancolella, M; Nardone, Am; Novelli, A; Brunetti, E; Bernardini, L; Novelli, G
Variations of Inflammatory Mediators and alpha(1)-Antitrypsin Levels after Lung Volume Reduction Surgery for Emphysema 1-gen-2010 Mineo, D; Ambrogi, V; Cufari, Me; Gambardella, S; Pignotti, L; Pompeo, E; Mineo, Tc
New PRSS1 and common CFTR mutations in a child with acute recurrent pancreatitis, could be considered an "Hereditary" form of pancreatitis? 1-gen-2010 Corleto, Vd; Gambardella, S; Gullotta, F; D'Apice, Mr; Piciucchi, M; Galli, E; Lucidi, V; Novelli, G; Delle Fave, G
Phenotypic Variability in a Family With Pancreatitis and Cystic Fibrosis Sharing Common Mild CFTR Mutation Report on CFTR Mutations and Their Phenotypic Variability 1-gen-2009 Alghisi, F; Bella, S; Lucidi, V; Angioni, A; Tomaiuolo, Ac; D'Apice, Mr; Gambardella, S; Novelli, G
Gene symbol: ED1. Disease: Ectodermal dysplasia 1-gen-2008 Gambardella, S
Screening of EDA1 gene in X-linked anhidrotic ectodermal dysplasia using DHPLC: Identification of 14 novel mutations in Italian patients 1-gen-2008 Conte, C; Gambardella, S; Bulli, C; Rinaldi, F; Di Marino, D; Falconi, M; Bramanti, P; Desideri, A; Novelli, G
Hyperproliferation in Nasal Polyposis Tissues Is Not Associated with Somatic Genomic Instability 1-gen-2008 Corradini, C; Gullotta, F; Ciacci, S; Palmieri, G; Salehi, Lb; De Corso, E; Novelli, G; Gambardella, S
Gene symbol: ED1. Disease: X-linked anhidrotic ectodermal dysplasia 1-gen-2008 Gambardella, S
Mostrati risultati da 61 a 80 di 91
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