Stefania Martino

Bari, Italy

Last Updated: 09/26/2026

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Found 9 publications

Expanding the Recessive Spectrum of Dilated Cardiomyopathy: RNA-Level Validation of a Homozygous CTNNA3 Splice-Site Variant.

Expanding the Recessive Spectrum of Dilated Cardiomyopathy: RNA-Level Validation of a Homozygous CTNNA3 Splice-Site Variant.

Journal: Human mutation

Published: May 13, 2026

Discovering Hereditary Risk Through Surveillance: A Prospective Genetic Analysis of Individuals With Familial Pancreatic Cancer.

Discovering Hereditary Risk Through Surveillance: A Prospective Genetic Analysis of Individuals With Familial Pancreatic Cancer.

Journal: United European gastroenterology journal

Published: January 13, 2026

Healthy BRCA1/2 mutation carriers exhibit a pre-CAF signature and altered epithelial marker expression in breast tissue.

Healthy BRCA1/2 mutation carriers exhibit a pre-CAF signature and altered epithelial marker expression in breast tissue.

Journal: Scientific reports

Published: May 27, 2025

Multicentric infantile myofibromatosis with extensive visceral involvement in a newborn: case report.

Multicentric infantile myofibromatosis with extensive visceral involvement in a newborn: case report.

Journal: Italian journal of pediatrics

Published: December 17, 2024

Expanding the phenotypic spectrum of PROS: reclassifying isolated lateralised overgrowth.

Expanding the phenotypic spectrum of PROS: reclassifying isolated lateralised overgrowth.

Journal: Journal of medical genetics

Published: September 03, 2024

Deep Intronic ETFDH Variants Represent a Recurrent Pathogenic Event in Multiple Acyl-CoA Dehydrogenase Deficiency.

Deep Intronic ETFDH Variants Represent a Recurrent Pathogenic Event in Multiple Acyl-CoA Dehydrogenase Deficiency.

Journal: International journal of molecular sciences

Published: August 20, 2024

Case report: Germline POT1 mutation in a patient with GIST and lung adenocarcinoma.

Case report: Germline POT1 mutation in a patient with GIST and lung adenocarcinoma.

Journal: Frontiers in oncology

Published: April 24, 2024

Impact of High-to-Moderate Penetrance Genes on Genetic Testing: Looking over Breast Cancer.

Impact of High-to-Moderate Penetrance Genes on Genetic Testing: Looking over Breast Cancer.

Journal: Genes

Published: June 23, 2023

Beyond BRCA1/2: Homologous Recombination Repair Genetic Profile in a Large Cohort of Apulian Ovarian Cancers.

Beyond BRCA1/2: Homologous Recombination Repair Genetic Profile in a Large Cohort of Apulian Ovarian Cancers.

Journal: Cancers

Published: December 09, 2021

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Last Updated: 09/26/2026