Arama Sonuçları - Torricelli, Francesca

Detecting common copy number variants in high-throughput sequencing data by using JointSLM algorithm Yazar: Magi, Alberto, Benelli, Matteo, Yoon, Seungtai, Roviello, Franco, Torricelli, Francesca

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Bioinformatics for Next Generation Sequencing Data Yazar: Magi, Alberto, Benelli, Matteo, Gozzini, Alessia, Girolami, Francesca, Torricelli, Francesca, Brandi, Maria Luisa

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Ocular phenotypes associated with biallelic mutations in BEST1 in Italian patients Yazar: Sodi, Andrea, Menchini, Francesca, Manitto, Maria Pia, Passerini, Ilaria, Murro, Vittoria, Torricelli, Francesca, Menchini, Ugo

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MYO7A and USH2A gene sequence variants in Italian patients with Usher syndrome Yazar: Sodi, Andrea, Mariottini, Alessandro, Passerini, Ilaria, Murro, Vittoria, Tachyla, Iryna, Bianchi, Benedetta, Menchini, Ugo, Torricelli, Francesca

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Characterization of a Novel Putative Xer-Dependent Integrative Mobile Element Carrying the bla(NMC-A) Carbapenemase Gene, Inserted into the Chromosome of Members of the Enterobacte... Yazar: Antonelli, Alberto, D'Andrea, Marco Maria, Di Pilato, Vincenzo, Viaggi, Bruno, Torricelli, Francesca, Rossolini, Gian Maria

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BEST1 sequence variants in Italian patients with vitelliform macular dystrophy Yazar: Sodi, Andrea, Passerini, Ilaria, Murro, Vittoria, Caputo, Roberto, Bacci, Giacomo Maria, Bodoj, Mirela, Torricelli, Francesca, Menchini, Ugo

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Draft Genome Sequence of the First Hypermucoviscous Klebsiella quasipneumoniae subsp. quasipneumoniae Isolate from a Bloodstream Infection Yazar: Arena, Fabio, Henrici De Angelis, Lucia, Pieralli, Filippo, Di Pilato, Vincenzo, Giani, Tommaso, Torricelli, Francesca, D’Andrea, Marco Maria, Rossolini, Gian Maria

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Targeted next generation sequencing in Italian patients with Usher syndrome: phenotype-genotype correlations Yazar: Eandi, Chiara M., Dallorto, Laura, Spinetta, Roberta, Micieli, Maria Pia, Vanzetti, Mario, Mariottini, Alessandro, Passerini, Ilaria, Torricelli, Francesca, Alovisi, Camilla, Marchese, Cristiana

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Sphingosine 1-Phosphate Induces Differentiation of Mesoangioblasts towards Smooth Muscle. A Role for GATA6 Yazar: Donati, Chiara, Marseglia, Giuseppina, Magi, Alberto, Serratì, Simona, Cencetti, Francesca, Bernacchioni, Caterina, Nannetti, Genni, Benelli, Matteo, Brunelli, Silvia, Torricelli, Francesca, Cossu, Giulio, Bruni, Paola

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A Systematic Assessment of Accuracy in Detecting Somatic Mosaic Variants by Deep Amplicon Sequencing: Application to NF2 Gene Yazar: Contini, Elisa, Paganini, Irene, Sestini, Roberta, Candita, Luisa, Capone, Gabriele Lorenzo, Barbetti, Lorenzo, Falconi, Serena, Frusconi, Sabrina, Giotti, Irene, Giuliani, Costanza, Torricelli, Francesca, Benelli, Matteo, Papi, Laura

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Clinical Phenotype and Outcome of Hypertrophic Cardiomyopathy Associated With Thin-Filament Gene Mutations Yazar: Coppini, Raffaele, Ho, Carolyn Y., Ashley, Euan, Day, Sharlene, Ferrantini, Cecilia, Girolami, Francesca, Tomberli, Benedetta, Bardi, Sara, Torricelli, Francesca, Cecchi, Franco, Mugelli, Alessandro, Poggesi, Corrado, Tardiff, Jil, Olivotto, Iacopo

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Defining the diagnostic effectiveness of genes for inclusion in panels: the experience of two decades of genetic testing for hypertrophic cardiomyopathy at a single center Yazar: Mazzarotto, Francesco, Girolami, Francesca, Boschi, Beatrice, Barlocco, Fausto, Tomberli, Alessia, Baldini, Katia, Coppini, Raffaele, Tanini, Ilaria, Bardi, Sara, Contini, Elisa, Cecchi, Franco, Pelo, Elisabetta, Cook, Stuart A., Cerbai, Elisabetta, Poggesi, Corrado, Torricelli, Francesca, Walsh, Roddy, Olivotto, Iacopo

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