AM
Alice Margutti
University of Ferrara
Research areas: Biochemistry, Genetics and Molecular Biology · Genetics · Genomics and Rare Diseases · Muscle Physiology and Disorders · Cardiac electrophysiology and arrhythmias
Employment
Education
-
University of Ferrara Scuola di Specializzazione in Genetica Medica2018 - 2022
-
University of Ferrara Scienze Biomolecolari e dell'evoluzione2014 - 2017
-
University of Ferrara Scienze Biologiche2011 - 2014
Projects & Funding
Projects & funding information is unavailable.
Publications (5)
- Clinical, Transcriptional and Haplotype Characterization of Recurrent MYBPC3 Splice-Site Variants c.1458-1G>A and c.3331-1G>A Associated with Hypertrophic Cardiomyopathy in Northern Italy Save
- Landscape Analysis of COL6A1, COL6A2, and COL6A3 Pathogenic Variants in a Large Italian Cohort Presenting with Collagen VI-Related Myopathies: A Nationwide Report Save
- Relevance of Next-Generation Sequencing in the Diagnosis of Thalassemia and Hemoglobinopathies: The Experience of Four Italian Diagnostic Hubs Save
- Ethnicity-related DMD genotype landscapes in European and non-European countries Save
- The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study Save