检索结果 - Novara, Francesca

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

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

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

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A Therapeutic Challenge: Liddle's Syndrome Managed with Amiloride during Pregnancy 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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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