Sökresultat - Giacopuzzi, Edoardo

Amplicon-based semiconductor sequencing of human exomes: performance evaluation and optimization strategies av Damiati, E., Borsani, G., Giacopuzzi, Edoardo

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GREEN-DB: a framework for the annotation and prioritization of non-coding regulatory variants from whole-genome sequencing data av Giacopuzzi, Edoardo, Popitsch, Niko, Taylor, Jenny C

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Editorial: Application of Omics Approaches to the Diagnosis of Genetic Neurological Disorders av Legati, Andrea, Giacopuzzi, Edoardo, Spinazzi, Marco, Lek, Monkol

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New Insights on the Sialidase Protein Family Revealed by a Phylogenetic Analysis in Metazoa av Giacopuzzi, Edoardo, Bresciani, Roberto, Schauer, Roland, Monti, Eugenio, Borsani, Giuseppe

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The Role of Metabotropic Glutamate Receptor Genes in Schizophrenia av Maj, Carlo, Minelli, Alessandra, Giacopuzzi, Edoardo, Sacchetti, Emilio, Gennarelli, Massimo

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Further Defining the Phenotypic Spectrum of B3GAT3 Mutations and Literature Review on Linkeropathy Syndromes av Ritelli, Marco, Cinquina, Valeria, Giacopuzzi, Edoardo, Venturini, Marina, Chiarelli, Nicola, Colombi, Marina

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Alterations observed in the interferon α and β signaling pathway in MDD patients are marginally influenced by cis-acting alleles av Magri, Chiara, Giacopuzzi, Edoardo, Sacco, Chiara, Bocchio-Chiavetto, Luisella, Minelli, Alessandra, Gennarelli, Massimo

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Gallus gallus NEU3 sialidase as model to study protein evolution mechanism based on rapid evolving loops av Giacopuzzi, Edoardo, Barlati, Sergio, Preti, Augusto, Venerando, Bruno, Monti, Eugenio, Borsani, Giuseppe, Bresciani, Roberto

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slc7a6os Gene Plays a Critical Role in Defined Areas of the Developing CNS in Zebrafish av Benini, Anna, Cignarella, Francesca, Calvarini, Laura, Mantovanelli, Silvia, Giacopuzzi, Edoardo, Zizioli, Daniela, Borsani, Giuseppe

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Genome-wide analysis of consistently RNA edited sites in human blood reveals interactions with mRNA processing genes and suggests correlations with cell types and biological variab... av Giacopuzzi, Edoardo, Gennarelli, Massimo, Sacco, Chiara, Filippini, Alice, Mingardi, Jessica, Magri, Chiara, Barbon, Alessandro

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In Silico Identification of New Putative Pathogenic Variants in the Neu1 Sialidase Gene Affecting Enzyme Function and Subcellular Localization av Bonardi, Dario, Ravasio, Viola, Borsani, Giuseppe, d'Azzo, Alessandra, Bresciani, Roberto, Monti, Eugenio, Giacopuzzi, Edoardo

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Differential Enzymatic Activity of Rat ADAR2 Splicing Variants Is Due to Altered Capability to Interact with RNA in the Deaminase Domain av Filippini, Alice, Bonini, Daniela, Giacopuzzi, Edoardo, La Via, Luca, Gangemi, Fabrizio, Colombi, Marina, Barbon, Alessandro

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Treatment-Resistant Schizophrenia: Genetic and Neuroimaging Correlates av Vita, Antonio, Minelli, Alessandra, Barlati, Stefano, Deste, Giacomo, Giacopuzzi, Edoardo, Valsecchi, Paolo, Turrina, Cesare, Gennarelli, Massimo

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Mutation analysis by direct and whole exome sequencing in familial and sporadic tooth agenesis av Salvi, Alessandro, Giacopuzzi, Edoardo, Bardellini, Elena, Amadori, Francesca, Ferrari, Lia, De Petro, Giuseppina, Borsani, Giuseppe, Majorana, Alessandra

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Whole Blood Transcriptome Characterization of 3xTg-AD Mouse and Its Modulation by Transcranial Direct Current Stimulation (tDCS) av Magri, Chiara, Vitali, Erika, Cocco, Sara, Giacopuzzi, Edoardo, Rinaudo, Marco, Martini, Paolo, Barbon, Alessandro, Grassi, Claudio, Gennarelli, Massimo

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Exome sequencing in schizophrenic patients with high levels of homozygosity identifies novel and extremely rare mutations in the GABA/glutamatergic pathways av Giacopuzzi, Edoardo, Gennarelli, Massimo, Minelli, Alessandra, Gardella, Rita, Valsecchi, Paolo, Traversa, Michele, Bonvicini, Cristian, Vita, Antonio, Sacchetti, Emilio, Magri, Chiara

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Estrogen-Like Effect of Mitotane Explained by Its Agonist Activity on Estrogen Receptor-α av Rossini, Elisa, Giacopuzzi, Edoardo, Gangemi, Fabrizio, Tamburello, Mariangela, Cosentini, Deborah, Abate, Andrea, Laganà, Marta, Berruti, Alfredo, Grisanti, Salvatore, Sigala, Sandra

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The Bartter-Gitelman Spectrum: 50-Year Follow-up With Revision of Diagnosis After Whole-Genome Sequencing av Stevenson, Mark, Pagnamenta, Alistair T, Mack, Heather G, Savige, Judith, Giacopuzzi, Edoardo, Lines, Kate E, Taylor, Jenny C, Thakker, Rajesh V

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A novel homozygous mutation in GAD1 gene described in a schizophrenic patient impairs activity and dimerization of GAD67 enzyme av Magri, Chiara, Giacopuzzi, Edoardo, La Via, Luca, Bonini, Daniela, Ravasio, Viola, Elhussiny, Mohammed E. A., Orizio, Flavia, Gangemi, Fabrizio, Valsecchi, Paolo, Bresciani, Roberto, Barbon, Alessandro, Vita, Antonio, Gennarelli, Massimo

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Author Correction: A novel homozygous mutation in GAD1 gene described in a schizophrenic patient impairs activity and dimerization of GAD67 enzyme av Magri, Chiara, Giacopuzzi, Edoardo, La Via, Luca, Bonini, Daniela, Ravasio, Viola, Elhussiny, Mohammed E. A., Orizio, Flavia, Gangemi, Fabrizio, Valsecchi, Paolo, Bresciani, Roberto, Barbon, Alessandro, Vita, Antonio, Gennarelli, Massimo

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