Genotype–phenotype gradient of SERPINC1 variants in a single family reveals a severe compound antithrombin deficiency in a dead embryo
Bravo‐Pérez, C., Morena‐Barrio, M. E., Palomo, A., Entrena, L., Morena‐Barrio, B., Padilla, J., Miñano, A., Navarro, E., Cifuentes, R., Corral, J., Vicente, V.
Published in British journal of haematology (01.10.2020)
Published in British journal of haematology (01.10.2020)
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Journal Article
When genetic and surname analyses meet historical sources: The C56R mutation associated with factor XI deficiency as a marker of human migration during the Spanish Reconquista
Bauduer, F., de la Morena-Barrio, M.E., Salloum-Asfar, S., de la Morena-Barrio, B., Padilla, J., Miñano, A., Vicente, V., Carbonell, P., Corral, J., Esteban, J.
Published in Medical hypotheses (01.08.2020)
Published in Medical hypotheses (01.08.2020)
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A pilot study on the impact of congenital thrombophilia in COVID‐19
Morena‐Barrio, Maria Eugenia, Bravo‐Pérez, Carlos, Morena‐Barrio, Belen, Orlando, Christelle, Cifuentes, Rosa, Padilla, Jose, Miñano, Antonia, Herrero, Sonia, Marcellini, Shally, Revilla, Nuria, Bernal, Enrique, Gómez‐Verdú, Jose Miguel, Jochmans, Kristin, Herranz, María Teresa, Vicente, Vicente, Corral, Javier, Lozano, María Luisa
Published in European Journal of Clinical Investigation (01.05.2021)
Published in European Journal of Clinical Investigation (01.05.2021)
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OC 75.4 Unraveling the Molecular Base of FXI Deficiency in 96 Unrelated Caucasian Patients by Short- and Long-Read based Sequencing Methods: Biochemical, Functional and Clinical Consequences
Rojo-Carrillo, J., de la morena-Barrio, B., Bravo-Perez, C., Miñano, A., Padilla, J., Cifuentes, R., Palomo Bravo, Á., Vicente, V., Lozano, M., Corral, J., de la Morena-Barrio, M.
Published in Research and practice in thrombosis and haemostasis (01.10.2023)
Published in Research and practice in thrombosis and haemostasis (01.10.2023)
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OC 65.3 Longread Nanopore Sequencing Reveal Novel Structural Variants in ITGB3, HPS5 and HPS3, Allowing Genetic Diagnosis of Glanzmann’s Thrombasthenia and Hermansky-Pudlak Syndrome in Four Unrelated Patients
Marin-Quilez, A., Zamora-Cánovas, A., de la morena-Barrio, B., Sierra Aisa, C., Male, C., Padilla, J., Fernández-Mosteirín, N., Trapero-Marugán, M., Gómez-González, P., de la Morena-Barrio, M., Sánchez-Fuentes, A., Rodríguez-Alén, A., Revilla, N., Benito, R., Bastida, J., Lozano, M., Corral, J., Rivera, J.
Published in Research and practice in thrombosis and haemostasis (01.10.2023)
Published in Research and practice in thrombosis and haemostasis (01.10.2023)
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Journal Article
Genotype-phenotype gradient of SERPINC1 variants in a single family reveals a severe compound antithrombin deficiency in a dead embryo
Bravo-Pérez, C, de la Morena-Barrio, M E, Palomo, A, Entrena, L, de la Morena-Barrio, B, Padilla, J, Miñano, A, Navarro, E, Cifuentes, R, Corral, J, Vicente, V
Published in British journal of haematology (01.10.2020)
Published in British journal of haematology (01.10.2020)
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