Antonio Percesepe
Parma, 43126, Italy
Last Updated: 09/26/2026
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Found 88 publications
Genotype-Driven Diagnosis Enables Targeted Pharmacological Treatment in Brunner Syndrome: A Novel Splice-Site MAOA Variant and Case-Based Review.
Journal: International journal of molecular sciences
Published: June 05, 2026
Benign Neoplasms in Biallelic Nth-Like DNA Glycosylase 1-Associated Tumor Syndrome: Expanding the Clinical Phenotype.
Journal: ACG case reports journal
Published: January 20, 2026
Expanding the spectrum of Darier Disease variants: 13 novel ATP2A2 genetic variations discovered in an Italian retrospective analysis.
Journal: Gene
Published: December 01, 2025
The Pathogenesis of the Neurofibroma-to-Sarcoma Transition in Neurofibromatosis Type I: From Molecular Profiles to Diagnostic Applications.
Journal: Cancers
Published: November 03, 2025
Arrhythmogenic Cardiomyopathy and Biomarkers: A Promising Perspective?
Journal: Journal of clinical medicine
Published: July 25, 2025
Two journeys, one diagnosis: exploring the clinical outcomes of twins with congenital myopathy.
Journal: BMC neurology
Published: July 22, 2025
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.
Journal: Nature genetics
Published: June 02, 2025
Genetics of Darier's Disease: New Insights into Pathogenic Mechanisms.
Journal: Genes
Published: April 30, 2025
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.
Journal: medRxiv : the preprint server for health sciences
Published: January 20, 2025
Diagnostic Yield and Clinical Impact of a Small Genetic Panel for Kidney Disease: A Multicenter, Retrospective European Study.
Journal: Clinical genetics
Published: January 07, 2025
Proof of Concept for Genome Profiling of the Neurofibroma/Sarcoma Sequence in Neurofibromatosis Type 1.
Journal: International journal of molecular sciences
Published: August 20, 2024
Clinical genetic services in the Emilia-Romagna region, Italy: current activity and open issues: a mixed-method study.
Journal: Journal of community genetics
Published: July 24, 2024
Last Updated: 09/26/2026