نتائج البحث - Carta, Claudio

Complete Sequence of the IncT-Type Plasmid pT-OXA-181 Carrying the bla(OXA-181) Carbapenemase Gene from Citrobacter freundii حسب 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 حسب 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 حسب 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 حسب 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 حسب 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 حسب 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 حسب 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 حسب 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 حسب 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 حسب 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 حسب 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 حسب 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 حسب 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 حسب 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 حسب 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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