PACCAGNELLA, ELISA
PACCAGNELLA, ELISA
Dipartimento Universitario Clinico di Scienze mediche, chirurgiche e della salute
Dottorandi
Beyond the Curtains: Identification of the Genetic Cause of Foetal Developmental Abnormalities Through the Application of Molecular Autopsy
2025-01-01 Spedicati, B; Pianigiani, G; Santin, A; Gasparini, Vr; Falcomer, I; Feresin, A; Bonati, Mt; Mazzà, D; Paccagnella, E; Pasquetti, D; Rubinato, E; Granata, C; Murru, Fm; Pinamonti, M; Bussani, R; Fantasia, I; Stampalija, T; Gasparini, P; Zampieri, S; Girotto, G.
Hidden in the Genome: The First Italian Family with North Carolina Macular Dystrophy Carrying a Novel PRDM13 and CCNC Duplication
2025-01-01 Spedicati, Beatrice; Pasquetti, Domizia; Santin, Aurora; Zampieri, Stefania; Morgan, Anna; Lenarduzzi, Stefania; Nardone, Giuseppe Giovanni; Paccagnella, Elisa; Cappellani, Stefania; Diplotti, Laura; Pensiero, Stefano; Parentin, Fulvio; Gasparini, Paolo; Battaglia Parodi, Maurizio; Girotto, Giorgia
In-Depth Phenotyping of PIGW-Related Disease and Its Role in 17q12 Genomic Disorder
2024-01-01 Feresin, Agnese; Lefebvre, Mathilde; Sjøstrøm, Emilie; Zanus, Caterina; Paccagnella, Elisa; Bruno, Irene; Valencic, Erica; Morgan, Anna; Tommasini, Alberto; Thauvin, Christel; Bayat, Allan; Girotto, Giorgia; Musante, Luciana
Unraveling the Functional Impact of Splicing Variants in Inherited Hearing Disorders Through Minigene Splicing Assays
2025-01-01 Rosso, Lara Emily; Pianigiani, Giulia; Morgan, Anna; Rubinato, Elisa; Paccagnella, Elisa; Lenarduzzi, Stefania; Wischmeijer, Anita; Spedicati, Beatrice; Girotto, Giorgia