Resultats de la cerca

• Development and design of bioinformatics tools for the management, analysis, interpretation, exploitation and control of biomedical NGS data(en curs)

  Tejero Laguna, E. (Autor), Surralles Calonge, J. (Director/a) & Rodriguez Santiago, B. (Director/a), 2024

  Tesi d’estudis: Tesi doctoral

• Aplication of massive parallel next generation sequencing in rare disease diagnostics(en curs)

  Marsal Olivan, A. (Autor), Surralles Calonge, J. (Director/a) & Rodriguez Santiago, B. (Director/a), 2024

  Tesi d’estudis: Tesi doctoral

• Genomics for the prevention and diagnosis of rare genetic diseases: from population screening to molecular characterisation of patients

  Marsal Olivan, A. (Autor), Surralles Calonge, J. (Director/a) & Rodriguez Santiago, B. (Director/a), 20 de febr. 2026

  Tesi d’estudis: Tesi doctoral

• Genomic data reanalysis and variant reinterpretation in genetic diseases: A bioinformatic and clinical reevaluation in inherited cardiac conditions and suspected Fanconi anaemia patient cohorts

  Tejero Laguna, E. (Autor), Surralles Calonge, J. (Director/a) & Rodriguez Santiago, B. (Director/a), 31 d’oct. 2025

  Tesi d’estudis: Tesi doctoral