Paolo Uva

Genoa, 16147, Italy

Last Updated: 09/26/2026

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Found 89 publications

PHOX2B defects alter protein folding, cell-cycle, and mitochondrial pathways in an in vitro model of CCHS.

PHOX2B defects alter protein folding, cell-cycle, and mitochondrial pathways in an in vitro model of CCHS.

Journal: Molecular medicine (Cambridge, Mass.)
Published: March 01, 2026

How multi-omic technologies can help define paediatric undifferentiated systemic autoinflammatory diseases: the experience of the European PerSAIDs consortium.

How multi-omic technologies can help define paediatric undifferentiated systemic autoinflammatory diseases: the experience of the European PerSAIDs consortium.

Journal: RMD open
Published: February 19, 2026

Machine learning, whole genome sequencing, and Mendelian randomization support a role of CRP on COVID-19 severity.

Machine learning, whole genome sequencing, and Mendelian randomization support a role of CRP on COVID-19 severity.

Journal: Molecular medicine (Cambridge, Mass.)
Published: February 19, 2026

Uncommon causal variants of the ADA2 gene in patients with reduced enzyme activity and nonconfirmatory genetic testing.

Uncommon causal variants of the ADA2 gene in patients with reduced enzyme activity and nonconfirmatory genetic testing.

Journal: The journal of allergy and clinical immunology. In practice
Published: July 27, 2025

Genetic Landscape of Non-Remitting Neutropenia in Children and Chronic Idiopathic Neutropenia in Adults.

Genetic Landscape of Non-Remitting Neutropenia in Children and Chronic Idiopathic Neutropenia in Adults.

Journal: International journal of molecular sciences
Published: June 11, 2025

Application of machine learning in the diagnostic work-up of telomere biology disorders.

Application of machine learning in the diagnostic work-up of telomere biology disorders.

Journal: HemaSphere
Published: February 12, 2025

Immunosuppressive contribution of tumour-infiltrating B cells in human intrahepatic cholangiocarcinoma and their role in chemoimmunotherapy outcome.

Immunosuppressive contribution of tumour-infiltrating B cells in human intrahepatic cholangiocarcinoma and their role in chemoimmunotherapy outcome.

Journal: Gut
Published: January 23, 2025

Stochastic epigenetic mutation profiles as biomarkers of clinical activity in juvenile idiopathic arthritis: a multi-omic machine learning approach for gene prioritization.

Stochastic epigenetic mutation profiles as biomarkers of clinical activity in juvenile idiopathic arthritis: a multi-omic machine learning approach for gene prioritization.

Journal: Molecular medicine (Cambridge, Mass.)
Published: November 11, 2024

Exploratory Analysis of Gut Microbiota Profile in Duchenne Muscular Dystrophy (DMD) Patients with Intellectual Disability.

Exploratory Analysis of Gut Microbiota Profile in Duchenne Muscular Dystrophy (DMD) Patients with Intellectual Disability.

Journal: Molecular neurobiology
Published: November 07, 2024

Cryoanalgesia for Pain Management After Pectus Excavatum Repair (COPPER) in Adolescents: A Randomized Controlled Trial.

Cryoanalgesia for Pain Management After Pectus Excavatum Repair (COPPER) in Adolescents: A Randomized Controlled Trial.

Journal: Paediatric anaesthesia
Published: August 17, 2024

Identification of a histone deacetylase inhibitor as a therapeutic candidate for congenital central hypoventilation syndrome.

Identification of a histone deacetylase inhibitor as a therapeutic candidate for congenital central hypoventilation syndrome.

Journal: Molecular therapy. Nucleic acids
Published: March 21, 2024

Comparison of Analgesia Methods Through a Web Platform in Patients Undergoing Thoracic Surgery: Pilot Design, Implementation, and Validation Study.

Comparison of Analgesia Methods Through a Web Platform in Patients Undergoing Thoracic Surgery: Pilot Design, Implementation, and Validation Study.

Journal: JMIR formative research
Published: January 24, 2024
Showing 1-12 of 89

Last Updated: 09/26/2026