SPEDICATI, BEATRICE

SPEDICATI, BEATRICE  

Dipartimento Universitario Clinico di Scienze mediche, chirurgiche e della salute  

Ricercatori a tempo determinato  

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Risultati 1 - 20 di 46 (tempo di esecuzione: 0.031 secondi).
Titolo Data di pubblicazione Autori File
A genome‐wide association meta‐analysis of all‐cause and vascular dementia 1-gen-2024 Maria Pina ConcasGirotto GiorgiaAurora SantinBeatrice Spedicati +
A Hitchhiker Guide to Structural Variant Calling: A Comprehensive Benchmark Through Different Sequencing Technologies 1-gen-2025 Nardone, Giuseppe GiovanniSantin, AuroraMorgan, AnnaSpedicati, BeatriceConcas, Maria PinaGasparini, PaoloGirotto, Giorgia +
A possible association between low MBL/lectin pathway functionality and microbiota dysbiosis in endometriosis patients 1-gen-2025 Toffoli, MiriamCampisciano, GiuseppinaSantin, AuroraPegoraro, SilviaZito, GabriellaSpedicati, BeatriceBalduit, AndreaRomano, FedericoDi Lorenzo, GiovanniMangogna, AlessandroTesolin, PaolaNardone, Giuseppe GiovanniZanotta, NunziaRicci, GiuseppeBulla, RobertaGirotto, GiorgiaAgostinis, Chiara +
Beckwith-Wiedemann syndrome and twinning: case report and brief review of literature 1-gen-2023 Elefante, PierandreaSpedicati, BeatriceFaletra, FlavioBarbi, EgidioTravan, Laura +
Beyond the Curtains: Identification of the Genetic Cause of Foetal Developmental Abnormalities Through the Application of Molecular Autopsy 1-gen-2025 Spedicati BPianigiani GSantin AGasparini VRFeresin APaccagnella ERubinato EPinamonti MBussani RFantasia IStampalija TGasparini PZampieri SGirotto G. +
Challenging Occam's Razor: Dual Molecular Diagnoses Explain Entangled Clinical Pictures 1-gen-2022 Spedicati, BeatriceMorgan, AnnaRubinato, ElisaSantin, AuroraFaletra, FlavioGirotto, Giorgia +
Clenching the Strings of Bruxism Etiopathogenesis: Association Analyses on Genetics and Environmental Risk Factors in a Deeply Characterized Italian Cohort 1-gen-2024 Luppieri, ValentinaSantin, AuroraSpedicati, BeatriceZampieri, StefaniaCadenaro, MilenaGirotto, GiorgiaConcas, Maria Pina +
Differential and shared genetic effects on kidney function between diabetic and non-diabetic individuals 1-gen-2022 Cocca, MassimilianoFeresin, AgneseMorgan, AnnaSpedicati, BeatriceCatamo, EulaliaRizzi, FedericaGirotto, GiorgiaPistis, GiorgioFrancescatto, MargheritaConcas, Maria PinaBianca, Martina LaPirastu, NicolaGasparini, Paolo +
Discovery of gene-alcohol interaction loci influencing blood pressure in 1.1 million individuals from multiple populations In corso di stampa Nardone GGRichter MSantin AWang WPianigiani GScartozzi ASpedicati BTesolin PConcas MPGasparini PGirotto GRudan IZhao WWinkler T. +
Does It Run in Your Family? Inherited Truncating PSMD12 Variants Broaden the Phenotypic Spectrum of Stankiewicz-Isidor Syndrome 1-gen-2025 Feresin, AgneseSpedicati, BeatriceZampieri, StefaniaMorgan, AnnaMagnolato, AndreaTesser, AlessandraTommasini, AlbertoGirotto, GiorgiaFaletra, Flavio +
Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus 1-gen-2022 Faletra, FlavioSpedicati, BeatriceGasparini, Paolo +
Expanding the Molecular Spectrum of MMP21 Missense Variants: Clinical Insights and Literature Review 1-gen-2025 Tesolin PPerino FZampieri SBobbo MCaiffa TSpedicati BGirotto G. +
Gene-educational attainment interactions in a multi-population genome-wide meta-analysis identify novel lipid loci 1-gen-2023 Robino, AntoniettaConcas, Maria PinaGirotto, GiorgiaSpedicati, Beatrice +
Genetic and Phenotypic Characterization of Nexilin (NEXN)-Related Cardiomyopathy: Results From a Multicentric Study 1-gen-2025 Perotto, MariaPaldino, AlessiaBarbati, GiuliaStolfo, DavideGigli, MartaCollesi, ChiaraGiacca, MauroZacchigna, SerenaSeverini, Giovanni MariaSpedicati, BeatriceSantin, AuroraGirotto, GiorgiaGasparini, PaoloMestroni, LuisaMerlo, MarcoSinagra, GianfrancoDal Ferro, Matteo +
Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits 1-gen-2024 Giorgia GirottoMaria Pina ConcasEulalia CatamoMassimiliano CoccaBeatrice SpedicatiMichela Traglia +
Genome‐Wide Interaction Analyses of Serum Calcium on Ventricular Repolarization Time in 125 393 Participants 1-gen-2024 Nardone, Giuseppe GiovanniSpedicati, BeatricePianigiani, GiuliaSantin, AuroraTesolin, PaolaConcas, Maria PinaGirotto, Giorgia +
Hidden in the Genome: The First Italian Family with North Carolina Macular Dystrophy Carrying a Novel PRDM13 and CCNC Duplication 1-gen-2025 Spedicati, BeatriceSantin, AuroraZampieri, StefaniaMorgan, AnnaNardone, Giuseppe GiovanniPaccagnella, ElisaCappellani, StefaniaPensiero, StefanoGasparini, PaoloGirotto, Giorgia +
Identifying missing pieces in color vision defects: a genome-wide association study in Silk Road populations 1-gen-2023 Nardone, Giuseppe GiovanniSpedicati, BeatriceConcas, Maria PinaSantin, AuroraMorgan, AnnaMazzetto, LorenzoGirotto, Giorgia +
Impact of cultural and genetic structure on food choices along the Silk Road 1-gen-2022 Mezzavilla, MassimoPirastu, NicolaGirotto, GiorgiaSpedicati, BeatriceGasparini, Paolo +
Infant with a big head and 'crossed' polysyndactyly 1-gen-2023 Tamaro, GianlucaBaldo, FrancescoSpedicati, BeatriceTaddio, AndreaFaletra, FlavioBarbi, Egidio