Maria E. Barrio-De La Morena

Murcia, MU, Spain

Last Updated: 09/26/2026

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Found 85 publications

Deep intronic variants in antithrombin deficiency: a next step toward complete molecular characterization with therapeutic implications.

Deep intronic variants in antithrombin deficiency: a next step toward complete molecular characterization with therapeutic implications.

Journal: Journal of thrombosis and haemostasis : JTH

Published: May 28, 2026

A data reduction workflow for mass spectrometry proteoform testing in the clinical laboratory: from antithrombin peaks to diagnosis.

A data reduction workflow for mass spectrometry proteoform testing in the clinical laboratory: from antithrombin peaks to diagnosis.

Journal: Clinical chemistry and laboratory medicine

Published: March 13, 2026

Common and rare variants in complement genes as biomarkers of COVID-19 infection and severity. A lesson to learn for emerging pathogens.

Common and rare variants in complement genes as biomarkers of COVID-19 infection and severity. A lesson to learn for emerging pathogens.

Journal: Frontiers in immunology

Published: March 12, 2026

Functional, biochemical, and clinical characterization of natural mutations affecting arginine residues in the heparin-binding site of antithrombin.

Functional, biochemical, and clinical characterization of natural mutations affecting arginine residues in the heparin-binding site of antithrombin.

Journal: HemaSphere

Published: December 03, 2025

Identification of new molecular mechanisms of antithrombin deficiency: six new SERPINC1 variants in a Polish cohort.

Identification of new molecular mechanisms of antithrombin deficiency: six new SERPINC1 variants in a Polish cohort.

Journal: Thrombosis research

Published: November 24, 2025

De novo mutations in antithrombin deficiency: high frequency and heterogeneous mechanisms.

De novo mutations in antithrombin deficiency: high frequency and heterogeneous mechanisms.

Journal: Haematologica

Published: August 04, 2025

Reduced Plasma Selenoprotein P Is Associated With Type I Antithrombin Deficiency and a Prothrombotic State.

Reduced Plasma Selenoprotein P Is Associated With Type I Antithrombin Deficiency and a Prothrombotic State.

Journal: Archives of pathology & laboratory medicine

Published: August 14, 2024

Novel insights into antithrombin deficiency enabled by mass spectrometry-based precision diagnostics.

Novel insights into antithrombin deficiency enabled by mass spectrometry-based precision diagnostics.

Journal: Journal of thrombosis and haemostasis : JTH

Published: June 27, 2024

Thrombotic risk and features of patients with inferior vena cava agenesis: a multicentre, retrospective, observational study.

Thrombotic risk and features of patients with inferior vena cava agenesis: a multicentre, retrospective, observational study.

Journal: The Lancet. Haematology

Published: January 11, 2024

Landscape of antisense genes in the human genome and identification of new human hepatic antisense RNAs by long-read sequencing.

Landscape of antisense genes in the human genome and identification of new human hepatic antisense RNAs by long-read sequencing.

Journal: BMC genomics

Published: January 09, 2024

Factor XI in Carriers of Antiphospholipid Antibodies: Elevated Levels Associated with Symptomatic Thrombotic Cases, While Low Levels Linked to Asymptomatic Cases.

Factor XI in Carriers of Antiphospholipid Antibodies: Elevated Levels Associated with Symptomatic Thrombotic Cases, While Low Levels Linked to Asymptomatic Cases.

Journal: International journal of molecular sciences

Published: October 06, 2023

Analysis of AlphaFold and molecular dynamics structure predictions of mutations in serpins.

Analysis of AlphaFold and molecular dynamics structure predictions of mutations in serpins.

Journal: PloS one

Published: September 21, 2023

Showing 1-12 of 85

Last Updated: 09/26/2026