Investigador Ramon y Cajal
Investigador Ramón y Cajal
Maria Luisa
Lozano Almela
Catedraticos de Universidad Vinculados
Publicaciones en las que colabora con Maria Luisa Lozano Almela (15)
2024
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Targeted long-read sequencing identifies and characterizes structural variants in cases of inherited platelet disorders
Journal of Thrombosis and Haemostasis, Vol. 22, Núm. 3, pp. 851-859
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The whole is greater than the sum of its parts: Long-read sequencing for solving clinical problems in haematology
Journal of Cellular and Molecular Medicine, Vol. 28, Núm. 3
2023
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Congenital factor XI deficiency and risk of heart failure in humans
Journal of Thrombosis and Haemostasis
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Factor XI in Carriers of Antiphospholipid Antibodies: Elevated Levels Associated with Symptomatic Thrombotic Cases, While Low Levels Linked to Asymptomatic Cases
International Journal of Molecular Sciences, Vol. 24, Núm. 22
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Impact of genetic structural variants in factor XI deficiency: identification, accurate characterization, and inferred mechanism by long-read sequencing
Journal of Thrombosis and Haemostasis, Vol. 21, Núm. 7, pp. 1779-1788
2022
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Full-length antithrombin frameshift variant with aberrant C-terminus causes endoplasmic reticulum retention with a dominant-negative effect
JCI Insight, Vol. 7, Núm. 19
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Two SERPINC1 variants affecting N-glycosylation of Asn224 cause severe thrombophilia not detected by functional assays
Blood, Vol. 140, Núm. 2, pp. 140-151
2021
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A pilot study on the impact of congenital thrombophilia in COVID-19
European Journal of Clinical Investigation
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Expanding the genetic spectrum of TUBB1-related thrombocytopenia
Blood Advances, Vol. 5, Núm. 24, pp. 5453-5467
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Prognostic value of thrombin generation parameters in hospitalized COVID-19 patients
Scientific Reports, Vol. 11, Núm. 1
2019
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Multirefractory primary immune thrombocytopenia; targeting the decreased sialic acid content
Platelets, Vol. 30, Núm. 6, pp. 743-751
2017
2014
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Proteomic analysis of platelet N-glycoproteins in PMM2-CDG patients
Thrombosis Research, Vol. 133, Núm. 3, pp. 412-417
2013
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GPI-anchor and GPI-anchored protein expression in PMM2-CDG patients
Orphanet Journal of Rare Diseases, Vol. 8, Núm. 1
2008
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Alteraciones de las plaquetas: etiopatogenia, clasificación, manifestaciones clínicas, diagnóstico y actitudes terapéuicas
Medicine: Programa de Formación Médica Continuada Acreditado, Serie 10, Núm. 22, pp. 1465-1474