GENÉTICA MOLECULAR EN ONCOHEMATOLOGÍA
Centro de Investigación Biomédica en Red sobre Enfermedades Raras
Madrid, EspañaPublications en collaboration avec des chercheurs de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (7)
2023
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NLRP3 inflammasome activation and symptom burden in KRAS-mutated CMML patients is reverted by IL-1 blocking therapy
Cell Reports Medicine, Vol. 4, Núm. 12
2022
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Clonal heterogeneity and rates of specific chromosome gains are risk predictors in childhood high-hyperdiploid B-cell acute lymphoblastic leukemia
Molecular Oncology, Vol. 16, Núm. 16, pp. 2899-2919
2021
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Pathogenic convergence of CNVs in genes functionally associated to a severe neuromotor developmental delay syndrome
Human Genomics, Vol. 15, Núm. 1
2020
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Helpful criteria when implementing ngs panels in childhood lymphoblastic leukemia
Journal of Personalized Medicine, Vol. 10, Núm. 4, pp. 1-15
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Novel dominant kcnq2 exon 7 partial in-frame duplication in a complex epileptic and neurodevelopmental delay syndrome
International Journal of Molecular Sciences, Vol. 21, Núm. 12, pp. 1-11
2019
2016
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Novel mutations in RASGRP2, which encodes CalDAG-GEFI, abrogate Rap1 activation, causing platelet dysfunction
Blood, Vol. 128, Núm. 9, pp. 1282-1289