Výsledky vyhledávání - Carta, Claudio

Complete Sequence of the IncT-Type Plasmid pT-OXA-181 Carrying the bla(OXA-181) Carbapenemase Gene from Citrobacter freundii Autor Villa, Laura, Carattoli, Alessandra, Nordmann, Patrice, Carta, Claudio, Poirel, Laurent

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Klebsiella pneumoniae ST258 Producing KPC-3 Identified in Italy Carries Novel Plasmids and OmpK36/OmpK35 Porin Variants Autor García-Fernández, Aurora, Villa, Laura, Carta, Claudio, Venditti, Carolina, Giordano, Alessandra, Venditti, Mario, Mancini, Carlo, Carattoli, Alessandra

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Genomic Duplication of PTPN11 is an Uncommon Cause of Noonan Syndrome Autor Graham, John M., Kramer, Nancy, Bejjani, Bassem A., Thiel, Christian T., Carta, Claudio, Neri, Giovanni, Tartaglia, Marco, Zenker, Martin

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Shaping the Future of Rare Diseases after a Global Health Emergency: Organisational Points to Consider Autor Talarico, Rosaria, Marinello, Diana, Cannizzo, Sara, Gaglioti, Andrea, Ticciati, Simone, Carta, Claudio, Kodra, Yllka, Azadegan, Mojgan, Taruscio, Domenica, Mosca, Marta, Turchetti, Giuseppe

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Draft Genome Sequence of Stenotrophomonas maltophilia Strain EPM1, Found in Association with a Culture of the Human Parasite Giardia duodenalis Autor Sassera, Davide, Leardini, Iacopo, Villa, Laura, Comandatore, Francesco, Carta, Claudio, Almeida, André, do Céu Sousa, Maria, Gaiarsa, Stefano, Marone, Piero, Pozio, Edoardo, Cacciò, Simone M.

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Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype–phenotype correlations Autor Dentici, Maria Lisa, Sarkozy, Anna, Pantaleoni, Francesca, Carta, Claudio, Lepri, Francesca, Ferese, Rosangela, Cordeddu, Viviana, Martinelli, Simone, Briuglia, Silvana, Digilio, Maria Cristina, Zampino, Giuseppe, Tartaglia, Marco, Dallapiccola, Bruno

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Germline Missense Mutations Affecting KRAS Isoform B Are Associated with a Severe Noonan Syndrome Phenotype Autor Carta, Claudio, Pantaleoni, Francesca, Bocchinfuso, Gianfranco, Stella, Lorenzo, Vasta, Isabella, Sarkozy, Anna, Digilio, Cristina, Palleschi, Antonio, Pizzuti, Antonio, Grammatico, Paola, Zampino, Giuseppe, Dallapiccola, Bruno, Gelb, Bruce D., Tartaglia, Marco

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NF1 Gene Mutations Represent the Major Molecular Event Underlying Neurofibromatosis-Noonan Syndrome Autor De Luca, Alessandro, Bottillo, Irene, Sarkozy, Anna, Carta, Claudio, Neri, Cinzia, Bellacchio, Emanuele, Schirinzi, Annalisa, Conti, Emanuela, Zampino, Giuseppe, Battaglia, Agatino, Majore, Silvia, Rinaldi, Maria M., Carella, Massimo, Marino, Bruno, Pizzuti, Antonio, Digilio, Maria Cristina, Tartaglia, Marco, Dallapiccola, Bruno

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A Restricted Spectrum of Mutations in the SMAD4 Tumor-Suppressor Gene Underlies Myhre Syndrome Autor Caputo, Viviana, Cianetti, Luciano, Niceta, Marcello, Carta, Claudio, Ciolfi, Andrea, Bocchinfuso, Gianfranco, Carrani, Eugenio, Dentici, Maria Lisa, Biamino, Elisa, Belligni, Elga, Garavelli, Livia, Boccone, Loredana, Melis, Daniela, Andria, Generoso, Gelb, Bruce D., Stella, Lorenzo, Silengo, Margherita, Dallapiccola, Bruno, Tartaglia, Marco

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Linked Registries: Connecting Rare Diseases Patient Registries through a Semantic Web Layer Autor Sernadela, Pedro, González-Castro, Lorena, Carta, Claudio, van der Horst, Eelke, Lopes, Pedro, Kaliyaperumal, Rajaram, Thompson, Mark, Thompson, Rachel, Queralt-Rosinach, Núria, Lopez, Estrella, Wood, Libby, Robertson, Agata, Lamanna, Claudia, Gilling, Mette, Orth, Michael, Merino-Martinez, Roxana, Posada, Manuel, Taruscio, Domenica, Lochmüller, Hanns, Robinson, Peter, Roos, Marco, Oliveira, José Luís

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The RD-Connect Registry & Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchers Autor Gainotti, Sabina, Torreri, Paola, Wang, Chiuhui Mary, Reihs, Robert, Mueller, Heimo, Heslop, Emma, Roos, Marco, Badowska, Dorota Mazena, de Paulis, Federico, Kodra, Yllka, Carta, Claudio, Martìn, Estrella Lopez, Miller, Vanessa Rangel, Filocamo, Mirella, Mora, Marina, Thompson, Mark, Rubinstein, Yaffa, Posada de la Paz, Manuel, Monaco, Lucia, Lochmüller, Hanns, Taruscio, Domenica

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Germline BRAF mutations in Noonan, LEOPARD and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum Autor Sarkozy, Anna, Carta, Claudio, Moretti, Sonia, Zampino, Giuseppe, Digilio, Maria C., Pantaleoni, Francesca, Scioletti, Anna Paola, Esposito, Giorgia, Cordeddu, Viviana, Lepri, Francesca, Petrangeli, Valentina, Dentici, Maria L., Mancini, Grazia M.S., Selicorni, Angelo, Rossi, Cesare, Mazzanti, Laura, Marino, Bruno, Ferrero, Giovanni B., Silengo, Margherita Cirillo, Memo, Luigi, Stanzial, Franco, Faravelli, Francesca, Stuppia, Liborio, Puxeddu, Efisio, Gelb, Bruce D., Dallapiccola, Bruno, Tartaglia, Marco

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Recommendations for Improving the Quality of Rare Disease Registries Autor Kodra, Yllka, Weinbach, Jérôme, Posada-de-la-Paz, Manuel, Coi, Alessio, Lemonnier, S. Lydie, van Enckevort, David, Roos, Marco, Jacobsen, Annika, Cornet, Ronald, Ahmed, S. Faisal, Bros-Facer, Virginie, Popa, Veronica, Van Meel, Marieke, Renault, Daniel, von Gizycki, Rainald, Santoro, Michele, Landais, Paul, Torreri, Paola, Carta, Claudio, Mascalzoni, Deborah, Gainotti, Sabina, Lopez, Estrella, Ambrosini, Anna, Müller, Heimo, Reis, Robert, Bianchi, Fabrizio, Rubinstein, Yaffa R., Lochmüller, Hanns, Taruscio, Domenica

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A restricted spectrum of NRAS mutations causes Noonan syndrome Autor Cirstea, Ion C, Kutsche, Kerstin, Dvorsky, Radovan, Gremer, Lothar, Carta, Claudio, Horn, Denise, Roberts, Amy E, Lepri, Francesca, Merbitz-Zahradnik, Torsten, König, Rainer, Kratz, Christian P, Pantaleoni, Francesca, Dentici, Maria L, Joshi, Victoria A, Kucherlapati, Raju S, Mazzanti, Laura, Mundlos, Stefan, Patton, Michael A, Silengo, Margherita Cirillo, Rossi, Cesare, Zampino, Giuseppe, Digilio, Cristina, Stuppia, Liborio, Seemanova, Eva, Pennacchio, Len A, Gelb, Bruce D, Dallapiccola, Bruno, Wittinghofer, Alfred, Ahmadian, Mohammad R, Tartaglia, Marco, Zenker, Martin

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The Italian National Centre for Rare Diseases: where research and public health translate into action Autor Taruscio, Domenica, Agresta, Linda, Amato, Annalisa, Bernardo, Giuseppe, Bernardo, Luana, Braguti, Francesca, Carbone, Pietro, Carta, Claudio, Ceccarini, Marina, Censi, Federica, Coppola, Simona, Crialese, Patrizia, De Santis, Marta, Diemoz, Stefano, Donati, Carlo, Gainotti, Sabina, Ferrari, Gianluca, Floridia, Giovanna, Frank, Claudio, Frazzica, Rosa Giuseppa, Gentile, Amalia E., Granata, Orietta, Kodra, Yllka, Latrofa, Manuela, Laricchiuta, Paola, Magrelli, Armando, Morciano, Cristina, Polizzi, Agata, Razeto, Stefania, Salvatore, Marco, Sanseverino, Antonella, Savini, Daniele, Torreri, Paola, Tosto, Fabrizio, Villani, Flavia, Vincenti, Giorgio, Vittozzi, Luciano

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