Ana Quilez-Marin

Murcia, MU, Spain

Last Updated: 09/26/2026

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Found 23 publications

The hidden cost of RNA editing in megakaryopoiesis.

The hidden cost of RNA editing in megakaryopoiesis.

Journal: Blood

Published: September 03, 2026

Corrigendum to 'A Novel Homozygous Splice-Site Variant in VPS33B Identified as a Cause of Bleeding': [JTHA 24/1, January 2026, Pages 146-154].

Corrigendum to 'A Novel Homozygous Splice-Site Variant in VPS33B Identified as a Cause of Bleeding': [JTHA 24/1, January 2026, Pages 146-154].

Journal: Journal of thrombosis and haemostasis : JTH

Published: June 10, 2026

A novel homozygous splice-site variant in VPS33B identified as a cause of bleeding: reply to the letter to the editor.

A novel homozygous splice-site variant in VPS33B identified as a cause of bleeding: reply to the letter to the editor.

Journal: Journal of thrombosis and haemostasis : JTH

Published: May 15, 2026

Characterization of Novel Variants in P2YRY12, GP6 and TBXAS1 in Patients with Lifelong History of Bleeding.

Characterization of Novel Variants in P2YRY12, GP6 and TBXAS1 in Patients with Lifelong History of Bleeding.

Journal: Biomolecules

Published: October 22, 2025

A novel homozygous splice-site variant in VPS33B identified as a cause of bleeding.

A novel homozygous splice-site variant in VPS33B identified as a cause of bleeding.

Journal: Journal of thrombosis and haemostasis : JTH

Published: June 25, 2025

The co-inheritance of two ITGB3 variants with additive detrimental effects on platelets leads to variant Glanzmann thrombasthenia.

The co-inheritance of two ITGB3 variants with additive detrimental effects on platelets leads to variant Glanzmann thrombasthenia.

Journal: Haematologica

Published: June 09, 2025

Examining the Effects of the RUNX1 p.Leu43Ser Variant on FPD/AML Phenotypes Using a CRISPR/Cas9-Generated Knock-In Murine Model.

Examining the Effects of the RUNX1 p.Leu43Ser Variant on FPD/AML Phenotypes Using a CRISPR/Cas9-Generated Knock-In Murine Model.

Journal: Biomolecules

Published: April 03, 2025

Insights into the clinical, platelet and genetic landscape of inherited thrombocytopenia with malignancy risk.

Insights into the clinical, platelet and genetic landscape of inherited thrombocytopenia with malignancy risk.

Journal: British journal of haematology

Published: March 08, 2025

Erratum to 'Illustrated State-of-the-Art Capsules of the ISTH 2024 Congress' [Research and Practice in Thrombosis and Haemostasis Volume 8, Issue 4, May 2024, 102432].

Erratum to 'Illustrated State-of-the-Art Capsules of the ISTH 2024 Congress' [Research and Practice in Thrombosis and Haemostasis Volume 8, Issue 4, May 2024, 102432].

Journal: Research and practice in thrombosis and haemostasis

Published: September 13, 2024

Targeted long-read sequencing identifies and characterizes structural variants in cases of inherited platelet disorders.

Targeted long-read sequencing identifies and characterizes structural variants in cases of inherited platelet disorders.

Journal: Journal of thrombosis and haemostasis : JTH

Published: June 23, 2023

GALE variants associated with syndromic manifestations, macrothrombocytopenia, bleeding, and platelet dysfunction.

GALE variants associated with syndromic manifestations, macrothrombocytopenia, bleeding, and platelet dysfunction.

Journal: Platelets

Published: February 27, 2023

Inherited Thrombocytopenia Caused by Variants in Crucial Genes for Glycosylation.

Inherited Thrombocytopenia Caused by Variants in Crucial Genes for Glycosylation.

Journal: International journal of molecular sciences

Published: December 30, 2022

Showing 1-12 of 23

Last Updated: 09/26/2026