Vigo
Campus
Hospital Universitario Pío del Río Hortega
Valladolid, EspañaPublicacións en colaboración con investigadores/as de Hospital Universitario Pío del Río Hortega (5)
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