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Alice Margutti

Observed name: A. Margutti
ORCID: 0000-0002-2056-1660
Observed ORCID: 0000-0002-2056-1660
OpenAlex ID: A5023336287
The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study
2020 · Marcella Neri, Rachele Rossi, et al. · Frontiers in Genetics · 88
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Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries
2020 · Rita Selvatici, Rachele Rossi, et al. · Neurology Genetics · 21
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Relevance of Next-Generation Sequencing in the Diagnosis of Thalassemia and Hemoglobinopathies: The Experience of Four Italian Diagnostic Hubs
2024 · Rita Selvatici, Valentina Guida, et al. · Genes · 12
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Cardiac conduction disorders in young adults: Clinical characteristics and genetic background of an underestimated population
2024 · Cristina Balla, Alice Margutti, et al. · Heart Rhythm · 7
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Mutations in MYBPC3 and MYH7 in Association with Brugada Type 1 ECG Pattern: Overlap between Brugada Syndrome and Hypertrophic Cardiomyopathy?
2021 · Marianna Farnè, Cristina Balla, et al. · Cardiogenetics · 6
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Landscape Analysis of COL6A1, COL6A2, and COL6A3 Pathogenic Variants in a Large Italian Cohort Presenting with Collagen VI-Related Myopathies: A Nationwide Report
2025 · Fernanda Fortunato, Laura Fiocco, et al. · Biomolecules · 3
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Mother and daughter with Kenny-Caffey syndrome: the adult phenotype
2024 · L. Tonelli, M. Sanchini, et al. · European Journal of Medical Genetics · 3
SCN5A mutation is associated with a higher Shanghai Score in patients with type 1 Brugada ECG pattern
2023 · Laura Tonelli, Cristina Balla, et al. · Journal of Cardiovascular Medicine · 2
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
2026 · Carlotta Pia Cristalli, Maria Alessandra Schiavo, et al. · Genes
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Muscle Function & Homeostasis / Molecular Therapeutic Approaches
2020 · M. Falzarano, N. Spedicato, et al. · Neuromuscular Disorders
P.134Physical and transcriptional characterization of human urinary stem cell populations
2019 · M. Falzarano, N. Spedicato, et al. · Neuromuscular Disorders
Works count: 11
Citation count: 142
H-index: 5
I10-index: 3
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