Fernanda Fabiani

Catanzaro, 88100, Italy

Last Updated: 09/26/2026

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Found 15 publications

Expanding the Mutational Spectrum of ACADVL: Integrative Characterization of the p.Ser72Phe Variant in Very Long-Chain Acyl-CoA Dehydrogenase Deficiency.

Expanding the Mutational Spectrum of ACADVL: Integrative Characterization of the p.Ser72Phe Variant in Very Long-Chain Acyl-CoA Dehydrogenase Deficiency.

Journal: Genes
Published: May 07, 2026

Hereditary Transthyretin Amyloidosis: Genetic Characterization of the TTR P.Val142Ile Variant in a Calabrian Kindred.

Hereditary Transthyretin Amyloidosis: Genetic Characterization of the TTR P.Val142Ile Variant in a Calabrian Kindred.

Journal: Genes
Published: July 08, 2025

Germline Testing in a Cohort of Patients at High Risk of Hereditary Cancer Predisposition Syndromes: First Two-Year Results from South Italy.

Germline Testing in a Cohort of Patients at High Risk of Hereditary Cancer Predisposition Syndromes: First Two-Year Results from South Italy.

Journal: Genes
Published: June 23, 2022

A Familial Form of Epidermolysis Bullosa Simplex Associated with a Pathogenic Variant in KRT5.

A Familial Form of Epidermolysis Bullosa Simplex Associated with a Pathogenic Variant in KRT5.

Journal: Genes
Published: August 30, 2021

Case Report: Identification of a Novel Pathogenic Germline TP53 Variant in a Family With Li-Fraumeni Syndrome.

Case Report: Identification of a Novel Pathogenic Germline TP53 Variant in a Family With Li-Fraumeni Syndrome.

Journal: Frontiers in genetics
Published: July 01, 2021

Epigenetic Regulation of Mitochondrial Quality Control Genes in Multiple Myeloma: A Sequenom MassARRAY Pilot Investigation on HMCLs.

Epigenetic Regulation of Mitochondrial Quality Control Genes in Multiple Myeloma: A Sequenom MassARRAY Pilot Investigation on HMCLs.

Journal: Journal of clinical medicine
Published: February 22, 2021

A novel ABCC6 variant causative of pseudoxanthoma elasticum.

A novel ABCC6 variant causative of pseudoxanthoma elasticum.

Journal: Human genome variation
Published: March 14, 2019

Polymorphic Variants in NR1I3 and UGT2B7 Predict Taxane Neurotoxicity and Have Prognostic Relevance in Patients With Breast Cancer: A Case-Control Study.

Polymorphic Variants in NR1I3 and UGT2B7 Predict Taxane Neurotoxicity and Have Prognostic Relevance in Patients With Breast Cancer: A Case-Control Study.

Journal: Clinical pharmacology and therapeutics
Published: November 24, 2018

Real-life 3D therapy failure: Analysis of NS5A 93H RAS plus 108 K polymorphism in complex with ombitasvir by molecular modeling.

Real-life 3D therapy failure: Analysis of NS5A 93H RAS plus 108 K polymorphism in complex with ombitasvir by molecular modeling.

Journal: Journal of medical virology
Published: November 29, 2017

New SLC12A3 disease causative mutation of Gitelman's syndrome.

New SLC12A3 disease causative mutation of Gitelman's syndrome.

Journal: World journal of nephrology
Published: March 24, 2016

The sodium-phosphate co-transporter SLC34A2, and pulmonary alveolar microlithiasis: Presentation of an inbred family and a novel truncating mutation in exon 3.

The sodium-phosphate co-transporter SLC34A2, and pulmonary alveolar microlithiasis: Presentation of an inbred family and a novel truncating mutation in exon 3.

Journal: Respiratory medicine case reports
Published: July 04, 2015

A phase II study on the efficacy and safety of procedural analgesia with fentanyl buccal tablet in cancer patients for the placement of indwelling central venous access systems.

A phase II study on the efficacy and safety of procedural analgesia with fentanyl buccal tablet in cancer patients for the placement of indwelling central venous access systems.

Journal: Supportive care in cancer : official journal of the Multinational Association of Supportive Care in Cancer
Published: March 25, 2015
Showing 1-12 of 15

Last Updated: 09/26/2026