*Facultade de Bioloxía
Centre
Centro de Investigación Biomédica en Red sobre Enfermedades Raras
Madrid, EspañaPublications in collaboration with researchers from Centro de Investigación Biomédica en Red sobre Enfermedades Raras (6)
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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Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome
npj Genomic Medicine, Vol. 7, Núm. 1
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