BERTOLDI, LORIS

BERTOLDI, LORIS  

Università di Padova  

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Titolo Data di pubblicazione Autori Rivista Serie Titolo libro
Bioinformatics for personal genomics: development and application of bioinformatic procedures for the analysis of genomic data 2018 Bertoldi, Loris - - -
Effect of 30 days of ketogenic Mediterranean diet with phytoextracts on athletes' gut microbiome composition 2022 Mancin, LauraBertoldi, LorisCenci, LorenzoPaoli, Antonio + FRONTIERS IN NUTRITION - -
Genetic Analyses in Dent Disease and Characterization of CLCN5 Mutations in Kidney Biopsies 2020 Gianesello, LisaCeol, MonicaBertoldi, LorisTerrin, LilianaPriante, GiovannaGiordano, MarioValle, GiorgioPrete, Dorella DelAnglani, Franca + INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES - -
Hypercalciuria and nephrolithiasis: Expanding the renal phenotype of Donnai-Barrow syndrome 2018 Anglani, F.Terrin, L.Ceol, M.Bertoldi, L.Valle, G. + CLINICAL GENETICS - -
MO063WHOLE EXOME SEQUENCING IN DENT DISESE PATIENTS WITH NO DETECTABLE MUTATIONS IN CLCN5 AND OCRL GENES 2016 Terrin, LilianaBertoldi, LorisCeol, MonicaGianesello, LisaPriante, GiovannaDel Prete, DorellaValle, GiorgioAnglani, Franca + NEPHROLOGY DIALYSIS TRANSPLANTATION - -
MO069LRP2 VARIANTS IN DENT DISEASE PATIENTS WITH NO DETECTABLE MUTATION IN CLCN5 AND OCRL GENES 2017 TERRIN, LILIANABERTOLDI, LORISCEOL, MONICAGIANESELLO, LISAPRIANTE, GIOVANNADEL PRETE, DORELLAVALLE, GIORGIOANGLANI, FRANCA NEPHROLOGY DIALYSIS TRANSPLANTATION - -
QueryOR: a comprehensive web platform for genetic variant analysis and prioritization 2017 BERTOLDI, LORISFORCATO, CLAUDIOVITULO, NICOLABIROLO, GIOVANNIDE PASCALE, FABIOFELTRIN, ERIKASCHIAVON, RICCARDOANGLANI, FRANCANEGRISOLO, SUSANNAZANETTI, ALESSANDRAD'AVANZO, FRANCESCATOMANIN, ROSELLAVEZZI, ALESSANDROVALLE, GIORGIO + BMC BIOINFORMATICS - -
SAMHD1‐deficient fibroblasts from Aicardi‐Goutières Syndrome patients can escape senescence and accumulate mutations 2020 Elisa FranzolinCOLETTA, SARAPaola FerraroGiovanna PontarinMartina StevanoniElisa PalumboStefano CagninLoris BertoldiErika FeltrinGiorgio ValleAntonella RussoVera BianchiChiara Rampazzo + THE FASEB JOURNAL - -
Setup and Validation of a Targeted Next-Generation Sequencing Approach for the Diagnosis of Lysosomal Storage Disorders 2020 Zanetti A.D'Avanzo F.Bertoldi L.Zampieri G.Feltrin E.De Pascale F.Rampazzo A.Forzan M.Valle G.Tomanin R. THE JOURNAL OF MOLECULAR DIAGNOSTICS - -
Whole-exome sequencing in radically resected gastric cancer (GC): Analysis of patients (pts) with poor prognostic factors from the Italian Trial of Adjuvant Chemotherapy Adenocarcinoma (ITACA-S) trial 2017 De Paoli, AlessandroValle, GiorgioBertoldi, LorisFeltrin, Erika + JOURNAL OF CLINICAL ONCOLOGY - -