BERTOLDI, LORIS

BERTOLDI, LORIS  

Università di Padova  

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Risultati 1 - 9 di 9 (tempo di esecuzione: 0.019 secondi).
Titolo Data di pubblicazione Autori Rivista Serie Titolo libro
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 - -
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 - -
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 - -
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 - -
Hypercalciuria and nephrolithiasis: Expanding the renal phenotype of Donnai-Barrow syndrome 2018 Anglani, F.Terrin, L.Ceol, M.Bertoldi, L.Valle, G. + CLINICAL GENETICS - -
Bioinformatics for personal genomics: development and application of bioinformatic procedures for the analysis of genomic data 2018 Bertoldi, Loris - - -
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 - -
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 - -