Publications dans lesquelles il/elle collabore avec Lorena Díaz Ajenjo (3)
2023
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Inherited Thrombocytopenia Caused by Variants in Crucial Genes for Glycosylation
International journal of molecular sciences, Vol. 24, Núm. 6
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Novel variants in GALE cause syndromic macrothrombocytopenia by disrupting glycosylation and thrombopoiesis
Blood, Vol. 141, Núm. 4, pp. 406-421
2022
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A novel nonsense variant in TPM4 caused dominant macrothrombocytopenia, mild bleeding tendency and disrupted cytoskeleton remodeling
Journal of Thrombosis and Haemostasis, Vol. 20, Núm. 5, pp. 1248-1255