Ana Marín-Quilez

8PUBLICATIONS
46CO-AUTHORS
HaematologyMolecular evolutionFermentationMedical infection agents (incl. prions)Foetal development and medicine
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Publications (8)

|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

|May 28, 2025
Examining the Effects of the RUNX1 p.Leu43Ser Variant on FPD/AML Phenotypes Using a CRISPR/Cas9-Generated Knock-In Murine Model.

Ana Marin-Quilez, Ignacio García-Tuñón, Rocío Benito

|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

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Frequent Collaborators

7 joint publications

José María Bastida

6 joint publications

José Rivera Pozo

3 joint publications

José Ramón González-Porras

3 joint publications

María Luisa Lozano