Paolo Uva

16PUBLICATIONS
74CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Neurology and neuromuscular diseasesPacific Peoples medicine and treatmentsMedical genetics (excl. cancer genetics)Gene expression (incl. microarray and other genome-wide approaches)
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Publications (16)

|Jul 29, 2025
Genetic Landscape of Non-Remitting Neutropenia in Children and Chronic Idiopathic Neutropenia in Adults.

Alice Grossi, Grigorios Tsaknakis, Francesca Rosamilia

|Apr 14, 2025
Somatic Double Inactivation of NF1 Associated with NF1-Related Pectus Excavatum Deformity.

Cristina Chelleri, Marcello Scala, Patrizia De Marco

|Feb 24, 2024
Impaired Mitochondrial Function and Marrow Failure in Patients Carrying a Variant of the SRSF4 Gene.

Maurizio Miano, Nadia Bertola, Alice Grossi

|Mar 29, 2023
Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213.

Marzia Ognibene, Marcello Scala, Michele Iacomino

|Nov 11, 2022
Exploration of Tools for the Interpretation of Human Non-Coding Variants.

Nicole Tabarini, Elena Biagi, Paolo Uva

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