Paula I. Buonfiglio
B, Argentina
Last Updated: 09/26/2026
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Found 19 publications
Recurrent Ventricular Tachycardia in a Young Adult-Imaging and Genetic Evidence of DSP-Associated Arrhythmogenic Cardiomyopathy: A Case Report.
Journal: Case reports in cardiology
Published: October 18, 2025
A case report in hypertrophic cardiomyopathy in a recreational athlete: multimodality risk assessment, genetic insights, and shared decision-making.
Journal: European heart journal. Case reports
Published: October 04, 2025
Isolated posterior mitral leaflet elongation as a rare mechanism of systolic anterior motion in hypertrophic cardiomyopathy: a case report of successful treatment with mavacamten.
Journal: European heart journal. Case reports
Published: October 03, 2025
ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: September 09, 2025
ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: September 24, 2024
In silico and in vivo analyses of a novel variant in MYO6 identified in a family with postlingual non-syndromic hearing loss from Argentina.
Journal: NAR genomics and bioinformatics
Published: September 17, 2024
Co-release of GABA and ACh from Medial Olivocochlear Neurons as a Fine Regulatory Mechanism of Cochlear Efferent Inhibition.
Journal: The Journal of neuroscience : the official journal of the Society for Neuroscience
Published: September 01, 2024
Co-release of GABA and ACh from medial olivocochlear neurons fine tunes cochlear efferent inhibition.
Journal: bioRxiv : the preprint server for biology
Published: August 26, 2024
Comprehensive Approach for the Genetic Diagnosis of Patients with Waardenburg Syndrome.
Journal: Journal of personalized medicine
Published: August 01, 2024
Prognostic significance of ACTN3 genotype in Duchenne muscular dystrophy: Findings from an Argentine patient cohort.
Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Published: February 16, 2024
Key role of the TM2-TM3 loop in calcium potentiation of the α9α10 nicotinic acetylcholine receptor.
Journal: Cellular and molecular life sciences : CMLS
Published: January 19, 2024
Last Updated: 09/26/2026