Pilar
Escribano Subías
Publikationen, an denen er mitarbeitet Pilar Escribano Subías (8)
2023
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Novel Loss-of-Function KCNA5 Variants in Pulmonary Arterial Hypertension
American Journal of Respiratory Cell and Molecular Biology, Vol. 69, Núm. 2, pp. 147-158
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Seven Additional Patients with SOX17 Related Pulmonary Arterial Hypertension and Review of the Literature
Genes, Vol. 14, Núm. 10
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Usefulness of genetics for clinical reclassification and refinement of prognostic stratification in pulmonary arterial hypertension
Revista Espanola de Cardiologia, Vol. 76, Núm. 6, pp. 460-467
2022
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First Genotype-Phenotype Study in TBX4 Syndrome Gain-of-Function Mutations Causative for Lung Disease
American Journal of Respiratory and Critical Care Medicine, Vol. 206, Núm. 12, pp. 1522-1533
2021
2020
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Characterization of rare ABCC8 variants identified in Spanish pulmonary arterial hypertension patients
Scientific Reports, Vol. 10, Núm. 1
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Clinical heterogeneity of Pulmonary Arterial Hypertension associated with variants in TBX4
PLoS ONE, Vol. 15, Núm. 4
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Customized massive parallel sequencing panel for diagnosis of pulmonary arterial hypertension
Genes, Vol. 11, Núm. 10, pp. 1-15