Publicacións nas que colabora con Juan Pablo Ochoa (6)
2022
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Genotype-phenotype correlations in hypertrophic cardiomyopathy: a multicenter study in Portugal and Spain of the TPM1 p.Arg21Leu variant
Revista Espanola de Cardiologia, Vol. 75, Núm. 3, pp. 242-250
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Identification of an elusive spliceogenic MYBPC3 variant in an otherwise genotype-negative hypertrophic cardiomyopathy pedigree
Scientific Reports, Vol. 12, Núm. 1
2021
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Clinical utility of genetic testing in patients with dilated cardiomyopathy
Medicina Clinica, Vol. 156, Núm. 10, pp. 485-495
2020
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Mutations in TRIM63 cause an autosomal-recessive form of hypertrophic cardiomyopathy
Heart, Vol. 106, Núm. 17, pp. 1342-1348
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Prognostic implications of pathogenic truncating variants in the TTN gene
International Journal of Cardiology, Vol. 316, pp. 180-183
2018
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Formin Homology 2 Domain Containing 3 (FHOD3) Is a Genetic Basis for Hypertrophic Cardiomyopathy
Journal of the American College of Cardiology, Vol. 72, Núm. 20, pp. 2457-2467