Maria D'apolito

Foggia, Italy

Last Updated: 09/26/2026

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Found 37 publications

Incidental findings of inherited thrombosis and hemostasis disorders in clinical exomes with unrelated indications.

Incidental findings of inherited thrombosis and hemostasis disorders in clinical exomes with unrelated indications.

Journal: Haematologica

Published: June 10, 2026

Author Correction: Defective CFTR induces aggresome formation and lung inflammation in cystic fibrosis through ROS-mediated autophagy inhibition.

Author Correction: Defective CFTR induces aggresome formation and lung inflammation in cystic fibrosis through ROS-mediated autophagy inhibition.

Journal: Nature cell biology

Published: February 23, 2026

Unmasking Brugada ECG Pattern in Myotonic Dystrophy Type 2 With an ANK2 Variant.

Unmasking Brugada ECG Pattern in Myotonic Dystrophy Type 2 With an ANK2 Variant.

Journal: Pacing and clinical electrophysiology : PACE

Published: February 06, 2026

From Metabolic to Epigenetic Memory: The Impact of Hyperglycemia-Induced Epigenetic Signature on Kidney Disease Progression and Complications.

From Metabolic to Epigenetic Memory: The Impact of Hyperglycemia-Induced Epigenetic Signature on Kidney Disease Progression and Complications.

Journal: Genes

Published: October 20, 2025

Unveiling Rare Genetic Variants in DAB2IP: New Insights Into the Pathogenesis of Recurrent Angioedema.

Unveiling Rare Genetic Variants in DAB2IP: New Insights Into the Pathogenesis of Recurrent Angioedema.

Journal: Allergy

Published: September 24, 2025

The Multifaceted Role of Mitochondria in Angiogenesis.

The Multifaceted Role of Mitochondria in Angiogenesis.

Journal: International journal of molecular sciences

Published: July 01, 2025

Clinical and Genetic Heterogeneity of Factor XI Deficiency: Insights from a Southern Italian Cohort.

Clinical and Genetic Heterogeneity of Factor XI Deficiency: Insights from a Southern Italian Cohort.

Journal: International journal of molecular sciences

Published: June 29, 2025

Caveolin 3 Variant T78M in a Large Family With Brugada Syndrome: Clinical Features and Coexistence of ADRB1 and GRK5 Gene Mutation.

Caveolin 3 Variant T78M in a Large Family With Brugada Syndrome: Clinical Features and Coexistence of ADRB1 and GRK5 Gene Mutation.

Journal: Journal of cardiovascular electrophysiology

Published: March 04, 2025

Genetic Background and Clinical Phenotype in an Italian Cohort with Inherited Arrhythmia Syndromes and Arrhythmogenic Cardiomyopathy (ACM): A Whole-Exome Sequencing Study.

Genetic Background and Clinical Phenotype in an Italian Cohort with Inherited Arrhythmia Syndromes and Arrhythmogenic Cardiomyopathy (ACM): A Whole-Exome Sequencing Study.

Journal: International journal of molecular sciences

Published: December 23, 2024

Uncovering a Genetic Diagnosis in a Pediatric Patient by Whole Exome Sequencing: A Modeling Investigation in Wiedemann-Steiner Syndrome.

Uncovering a Genetic Diagnosis in a Pediatric Patient by Whole Exome Sequencing: A Modeling Investigation in Wiedemann-Steiner Syndrome.

Journal: Genes

Published: July 28, 2024

Investigation of a Large Kindred Reveals Cardiac Calsequestrin (CASQ2) as a Cause of Brugada Syndrome.

Investigation of a Large Kindred Reveals Cardiac Calsequestrin (CASQ2) as a Cause of Brugada Syndrome.

Journal: Genes

Published: May 31, 2024

De Novo p.Asp3368Gly Variant of Dystrophin Gene Associated with X-Linked Dilated Cardiomyopathy and Skeletal Myopathy: Clinical Features and In Silico Analysis.

De Novo p.Asp3368Gly Variant of Dystrophin Gene Associated with X-Linked Dilated Cardiomyopathy and Skeletal Myopathy: Clinical Features and In Silico Analysis.

Journal: International journal of molecular sciences

Published: January 31, 2024

Showing 1-12 of 37

Last Updated: 09/26/2026