Rezultati pretrage - Novara, Francesca

A Big Year for Open Access Chemistry Publishing od Novara, Francesca Rita

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10 Years of Open Access Society Publishing od Novara, Francesca Rita

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A Golden Ten: A Decade of Open Access Society Publishing od Novara, Francesca Rita

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A Therapeutic Challenge: Liddle's Syndrome Managed with Amiloride during Pregnancy od Caretto, Amelia, Primerano, Liviana, Novara, Francesca, Zuffardi, Orsetta, Genovese, Stefano, Rondinelli, Maurizio

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MECP2 duplication phenotype in symptomatic females: report of three further cases od Novara, Francesca, Simonati, Alessandro, Sicca, Federico, Battini, Roberta, Fiori, Simona, Contaldo, Annarita, Criscuolo, Lucia, Zuffardi, Orsetta, Ciccone, Roberto

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Dissection of partial 21q monosomy in different phenotypes: clinical and molecular characterization of five cases and review of the literature od Errichiello, Edoardo, Novara, Francesca, Cremante, Anna, Verri, Annapia, Galli, Jessica, Fazzi, Elisa, Bellotti, Daniela, Losa, Laura, Cisternino, Mariangela, Zuffardi, Orsetta

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Severe X-Linked Mitochondrial Encephalomyopathy Associated with a Mutation in Apoptosis-Inducing Factor od Ghezzi, Daniele, Sevrioukova, Irina, Invernizzi, Federica, Lamperti, Costanza, Mora, Marina, D'Adamo, Pio, Novara, Francesca, Zuffardi, Orsetta, Uziel, Graziella, Zeviani, Massimo

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Different molecular mechanisms causing 9p21 deletions in acute lymphoblastic leukemia of childhood od Novara, Francesca, Beri, Silvana, Bernardo, Maria Ester, Bellazzi, Riccardo, Malovini, Alberto, Ciccone, Roberto, Cometa, Angela Maria, Locatelli, Franco, Giorda, Roberto, Zuffardi, Orsetta

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The Search for Molecular Markers in a Gene-Orphan Case Study of a Pediatric Spinal Cord Pilocytic Astrocytoma od MARTINELLI, CAROLINA, GABRIELE, FABIO, MANAI, FEDERICO, CICCONE, ROBERTO, NOVARA, FRANCESCA, SAUTA, ELISABETTA, BELLAZZI, RICCARDO, PATANE, MONICA, MORONI, ISABELLA, PATERRA, ROSINA, COMINCINI, SERGIO

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In vitro biosafety profile evaluation of multipotent mesenchymal stem cells derived from the bone marrow of sarcoma patients od Lucarelli, Enrico, Bellotti, Chiara, Mantelli, Melissa, Avanzini, Maria Antonietta, Maccario, Rita, Novara, Francesca, Arrigo, Giulia, Zuffardi, Orsetta, Zuntini, Monia, Pandolfi, Martina, Sangiorgi, Luca, Lisini, Daniela, Donati, Davide, Duchi, Serena

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Genome-wide copy number analysis in pediatric glioblastoma multiforme od Giunti, Laura, Pantaleo, Marilena, Sardi, Iacopo, Provenzano, Aldesia, Magi, Alberto, Cardellicchio, Stefania, Castiglione, Francesca, Tattini, Lorenzo, Novara, Francesca, Buccoliero, Anna Maria, de Martino, Maurizio, Genitori, Lorenzo, Zuffardi, Orsetta, Giglio, Sabrina

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Guideline recommendations for diagnosis and clinical management of Ring14 syndrome—first report of an ad hoc task force od Rinaldi, Berardo, Vaisfeld, Alessandro, Amarri, Sergio, Baldo, Chiara, Gobbi, Giuseppe, Magini, Pamela, Melli, Erto, Neri, Giovanni, Novara, Francesca, Pippucci, Tommaso, Rizzi, Romana, Soresina, Annarosa, Zampini, Laura, Zuffardi, Orsetta, Crimi, Marco

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MCT8 Deficiency: Extrapyramidal Symptoms and Delayed Myelination as Prominent Features od Tonduti, Davide, Vanderver, Adeline, Berardinelli, Angela, Schmidt, Johanna L., Collins, Christin D., Novara, Francesca, Di Genni, Antonia, Mita, Alda, Triulzi, Fabio, Brunstrom-Hernandez, Janice E., Zuffardi, Orsetta, Balottin, Umberto, Orcesi, Simona

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Genotype–phenotype relationship in three cases with overlapping 19p13.12 microdeletions od Bonaglia, Maria C, Marelli, Susan, Novara, Francesca, Commodaro, Simona, Borgatti, Renato, Minardo, Grazia, Memo, Luigi, Mangold, Elisabeth, Beri, Silvana, Zucca, Claudio, Brambilla, Daniele, Molteni, Massimo, Giorda, Roberto, Weber, Ruthild G, Zuffardi, Orsetta

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Three reportedly unrelated families with Liddle’s syndrome inherited from a common ancestor od Pagani, Luca, Diekmann, Yoan, Sazzini, Marco, De Fanti, Sara, Rondinelli, Maurizio, Farnetti, Enrico, Casali, Bruno, Caretto, Amelia, Novara, Francesca, Zuffardi, Orsetta, Garagnani, Paolo, Mantero, Franco, Thomas, Mark G., Luiselli, Donata, Rossi, Ermanno

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Generation of mesenchymal stromal cells in the presence of platelet lysate: a phenotypic and functional comparison of umbilical cord blood- and bone marrow-derived progenitors od Avanzini, Maria Antonietta, Bernardo, Maria Ester, Cometa, Angela Maria, Perotti, Cesare, Zaffaroni, Nadia, Novara, Francesca, Visai, Livia, Moretta, Antonia, Del Fante, Claudia, Villa, Raffaella, Ball, Lynne M., Fibbe, Willem E., Maccario, Rita, Locatelli, Franco

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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations od Conti, Valerio, Carabalona, Aurelie, Pallesi-Pocachard, Emilie, Leventer, Richard J., Schaller, Fabienne, Parrini, Elena, Deparis, Agathe A., Watrin, Françoise, Buhler, Emmanuelle, Novara, Francesca, Lise, Stefano, Pagnamenta, Alistair T., Kini, Usha, Taylor, Jenny C., Zuffardi, Orsetta, Represa, Alfonso, Keays, David Antony, Guerrini, Renzo, Falace, Antonio, Cardoso, Carlos

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Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases od Novara, Francesca, Rinaldi, Berardo, Sisodiya, Sanjay M, Coppola, Antonietta, Giglio, Sabrina, Stanzial, Franco, Benedicenti, Francesco, Donaldson, Alan, Andrieux, Joris, Stapleton, Rachel, Weber, Astrid, Reho, Paolo, van Ravenswaaij-Arts, Conny, Kerstjens-Frederikse, Wilhelmina S, Vermeesch, Joris Robert, Devriendt, Koenraad, Bacino, Carlos A, Delahaye, Andrée, Maas, S M, Iolascon, Achille, Zuffardi, Orsetta

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Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder od Bain, Jennifer M., Thornburg, Olivia, Pan, Cheryl, Rome-Martin, Donnielle, Boyle, Lia, Fan, Xiao, Devinsky, Orrin, Frye, Richard, Hamp, Silke, Keator, Cynthia G., LaMarca, Nicole M., Maddocks, Alexis B.R., Madruga-Garrido, Marcos, Niederhoffer, Karen Y., Novara, Francesca, Peron, Angela, Poole-Di Salvo, Elizabeth, Salazar, Rachel, Skinner, Steven A., Soares, Gabriela, Goldman, Sylvie, Chung, Wendy K.

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A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures od Sharp, Andrew J, Mefford, Heather C, Li, Kelly, Baker, Carl, Skinner, Cindy, Stevenson, Roger E, Schroer, Richard J, Novara, Francesca, De Gregori, Manuela, Ciccone, Roberto, Broomer, Adam, Casuga, Iris, Wang, Yu, Xiao, Chunlin, Barbacioru, Catalin, Gimelli, Giorgio, Bernardina, Bernardo Dalla, Torniero, Claudia, Giorda, Roberto, Regan, Regina, Murday, Victoria, Mansour, Sahar, Fichera, Marco, Castiglia, Lucia, Failla, Pinella, Ventura, Mario, Jiang, Zhaoshi, Cooper, Gregory M, Knight, Samantha JL, Romano, Corrado, Zuffardi, Orsetta, Chen, Caifu, Schwartz, Charles E, Eichler, Evan E

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