Publications by authors named "V Capra"

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Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From Variants to Clinical Phenotypes.
Pasquale Di Letto, Chiara De Leonibus, Francesca Pia Palmieri, Mariateresa Zanobio, Margherita Scarpato, Valeria Capra

Neurol Genet· December 2025

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A novel frameshift CUX2 variant in a patient with epilepsy and global developmental delay: phenotypic and genotypic expansion.
Ferruccio Romano, Mohammad Sadegh Shams Nosrati, Francesca Madia, Marzia Ognibene, Monica Traverso, Valeria Capra

Eur J Med Genet· December 2025

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The Emerging Spectrum: From Distal Arthrogryposis to Congenital Myopathy.
Nami Altin, Kamel Mamchaoui, Jessica Ohana, Anne Bigot, Beatrice Corradi, Valeria Capra

Hum Mutat· December 2025

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Exploring the antifungal arsenal of the soil-dwelling fungus Aspergillus fischeri: Identification and functional characterization of the antifungal protein AfAfpC.
Vittorio Capra, Carolina Ropero-Pérez, María Ruiz, Mirca Zotti, Jose F Marcos

Int J Biol Macromol· September 2025

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Functional Characterization of a Novel Intronic Variant in PIEZO2 in a Recessive Form of Distal Arthrogryposis With Impaired Proprioception and Touch (DAIPT).
Michela Bellardita, Ferruccio Romano, Ludovica Menta, Joana Soraia Martinheira Da Silva, Marzia Ognibene, Valeria Capra

Mol Genet Genomic Med· August 2025

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