Valeria Barili

Parma, Italy

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 50 publications

Missense variants in KATNA1 alter microtubule dynamics and underlie dominant macular dystrophy.

Missense variants in KATNA1 alter microtubule dynamics and underlie dominant macular dystrophy.

Journal: Research square

Published: July 17, 2026

Genotype-Driven Diagnosis Enables Targeted Pharmacological Treatment in Brunner Syndrome: A Novel Splice-Site MAOA Variant and Case-Based Review.

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

Genome Sequencing of Undiagnosed European Patients Suspected of Hereditary Cancer: Diagnostic Yield and Identification of Candidate Causative Variants.

Genome Sequencing of Undiagnosed European Patients Suspected of Hereditary Cancer: Diagnostic Yield and Identification of Candidate Causative Variants.

Journal: JCO precision oncology

Published: April 16, 2026

The impact of single nucleotide polymorphisms on the absorption, distribution, metabolism, and excretion of dietary (poly)phenols: a critical systematic review.

The impact of single nucleotide polymorphisms on the absorption, distribution, metabolism, and excretion of dietary (poly)phenols: a critical systematic review.

Journal: Food & function

Published: November 19, 2025

A computational reference for human genomics analysis in (poly)phenol research.

A computational reference for human genomics analysis in (poly)phenol research.

Journal: Food & function

Published: November 19, 2025

The Pathogenesis of the Neurofibroma-to-Sarcoma Transition in Neurofibromatosis Type I: From Molecular Profiles to Diagnostic Applications.

The Pathogenesis of the Neurofibroma-to-Sarcoma Transition in Neurofibromatosis Type I: From Molecular Profiles to Diagnostic Applications.

Journal: Cancers

Published: November 03, 2025

Dysregulated transcription in core- and pol-specific CD8 T cells can be targeted by HDAC inhibition to improve T-cell function in chronic hepatitis B.

Dysregulated transcription in core- and pol-specific CD8 T cells can be targeted by HDAC inhibition to improve T-cell function in chronic hepatitis B.

Journal: Journal of hepatology

Published: July 28, 2025

Genetics of Darier's Disease: New Insights into Pathogenic Mechanisms.

Genetics of Darier's Disease: New Insights into Pathogenic Mechanisms.

Journal: Genes

Published: April 30, 2025

Correction: Cavazzoni et al. Pemetrexed Enhances Membrane PD-L1 Expression and Potentiates T Cell-Mediated Cytotoxicity by Anti-PD-L1 Antibody Therapy in Non-Small-Cell Lung Cancer. Cancers 2020, 12, 666.

Correction: Cavazzoni et al. Pemetrexed Enhances Membrane PD-L1 Expression and Potentiates T Cell-Mediated Cytotoxicity by Anti-PD-L1 Antibody Therapy in Non-Small-Cell Lung Cancer. Cancers 2020, 12, 666.

Journal: Cancers

Published: March 04, 2025

Cancer prognosis and treatment results in patients with PTEN Hamartoma Tumour Syndrome (PHTS)-a European cohort study.

Cancer prognosis and treatment results in patients with PTEN Hamartoma Tumour Syndrome (PHTS)-a European cohort study.

Journal: BJC reports

Published: February 13, 2025

Proof of Concept for Genome Profiling of the Neurofibroma/Sarcoma Sequence in Neurofibromatosis Type 1.

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.

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

Showing 1-12 of 50

Last Updated: 09/26/2026