Ana Marín-Quilez

7PUBLICATIONS
46CO-AUTHORS
HaematologyMolecular evolutionFermentationMedical infection agents (incl. prions)Foetal development and medicine
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (7)

|Dec 30, 2025
Characterization of Novel Variants in P2YRY12, GP6 and TBXAS1 in Patients with Lifelong History of Bleeding.

Ana Zamora-Cánovas, Ana Marín-Quílez, Lorena Díaz-Ajenjo

|Jul 16, 2025
Insights into the clinical, platelet and genetic landscape of inherited thrombocytopenia with malignancy risk.

Ana Marín-Quílez, Ana Sánchez-Fuentes, Ana Zamora-Cánovas

|Feb 27, 2023
GALE variants associated with syndromic manifestations, macrothrombocytopenia, bleeding, and platelet dysfunction.

Ana Marín-Quílez, Christian A Di Buduo, Rocío Benito

|Nov 17, 2022
Novel variants in GALE cause syndromic macrothrombocytopenia by disrupting glycosylation and thrombopoiesis.

Ana Marín-Quílez, Christian Andrea Di Buduo, Lorena Díaz-Ajenjo

|Feb 16, 2022
A novel nonsense variant in TPM4 caused dominant macrothrombocytopenia, mild bleeding tendency and disrupted cytoskeleton remodeling.

Ana Marín-Quílez, Elena Vuelta, Lorena Díaz-Ajenjo

Pageof 2