Roberta Trunzo

Foggia, Italy

Last Updated: 09/26/2026

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Found 8 publications

Novel AKAP9 mutation and long QT syndrome in a patient with torsades des pointes.

Novel AKAP9 mutation and long QT syndrome in a patient with torsades des pointes.

Journal: Journal of interventional cardiac electrophysiology : an international journal of arrhythmias and pacing

Published: March 22, 2019

In vitro residual activity of phenylalanine hydroxylase variants and correlation with metabolic phenotypes in PKU.

In vitro residual activity of phenylalanine hydroxylase variants and correlation with metabolic phenotypes in PKU.

Journal: Gene

Published: July 05, 2016

The first case of a small supernumerary marker chromosome derived from chromosome 10 in an adult woman with an apparently normal phenotype.

The first case of a small supernumerary marker chromosome derived from chromosome 10 in an adult woman with an apparently normal phenotype.

Journal: Systems biology in reproductive medicine

Published: August 14, 2015

Phenylalanine hydroxylase deficiency in south Italy: Genotype-phenotype correlations, identification of a novel mutant PAH allele and prediction of BH4 responsiveness.

Phenylalanine hydroxylase deficiency in south Italy: Genotype-phenotype correlations, identification of a novel mutant PAH allele and prediction of BH4 responsiveness.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: May 28, 2015

Identification of ten novel mutations in factor VIII gene: A study of a cohort of 52 haemophilia A patients.

Identification of ten novel mutations in factor VIII gene: A study of a cohort of 52 haemophilia A patients.

Journal: Thrombosis research

Published: December 02, 2014

Lack of genotypephenotype correlation in congenital adrenal hyperplasia due to a CYP21A2-like gene.

Lack of genotypephenotype correlation in congenital adrenal hyperplasia due to a CYP21A2-like gene.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: March 30, 2014

Intra-familiar discordant PKU phenotype explained by mutation analysis in three pedigrees.

Intra-familiar discordant PKU phenotype explained by mutation analysis in three pedigrees.

Journal: Clinical biochemistry

Published: September 21, 2013

Mutation analysis in hyperphenylalaninemia patients from South Italy.

Mutation analysis in hyperphenylalaninemia patients from South Italy.

Journal: Clinical biochemistry

Published: March 21, 2013

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Last Updated: 09/26/2026