Publicacións nas que colabora con Luis Santomé Collazo (4)
2022
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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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A cryptic splice-altering KCNQ1 variant in trans with R259L leading to Jervell and Lange-Nielsen syndrome
npj Genomic Medicine, Vol. 6, Núm. 1
2020
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Mutations in TRIM63 cause an autosomal-recessive form of hypertrophic cardiomyopathy
Heart, Vol. 106, Núm. 17, pp. 1342-1348
2019
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First Reported Case of Fabry Disease Caused by a Somatic Mosaicism in the GLA Gene
Revista Espanola de Cardiologia, Vol. 72, Núm. 7, pp. 585-587