Publications by authors named "A Percesepe"

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Diagnostic Yield and Clinical Impact of a Small Genetic Panel for Kidney Disease: A Multicenter, Retrospective European Study.
Silvia Giovanella, Antonio Miguel Poyatos-Andújar, Maria Mar Aguila Garcia, Almudena Avila-Fernandez, Ana Bustamante-Aragonés, Antonio Percesepe

Clin Genet· January 2026

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Arrhythmogenic Cardiomyopathy and Biomarkers: A Promising Perspective?
Federico Barocelli, Nicolò Pasini, Alberto Bettella, Antonio Crocamo, Enrico Ambrosini, Antonio Percesepe

J Clin Med· October 2025

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Two journeys, one diagnosis: exploring the clinical outcomes of twins with congenital myopathy.
M C Pera, G Pisanò, M Gnazzo, S Moretti, L Gambini, A Percesepe

BMC Neurol· October 2025

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Genetics of Darier's Disease: New Insights into Pathogenic Mechanisms.
Barbara Moschella, Sabrina Busciglio, Enrico Ambrosini, Sofia Cesarini, Luca Caramanna, Antonio Percesepe

Genes (Basel)· May 2025

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De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.
Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova, Karolina Kaminska, Suzanne E de Bruijn, Antonio Percesepe

medRxiv· January 2025

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