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 39 (tempo di esecuzione: 0.054 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 +
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 +
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
Lights and shadows in the genetics of syndromic and non-syndromic hearing loss in the Italian population 1-gen-2020 Morgan A.Spedicati B.Graziano C.Faletra F.Girotto G. +
Multi-trait analysis characterizes the genetics of thyroid function and identifies causal associations with clinical implications 1-gen-2024 Maria Pina ConcasBeatrice Spedicati +