Publicacións nas que colabora con Uxía Saraiva Esperón Moldes (5)
2020
2019
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A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype-phenotype correlations
Molecular Genetics and Genomic Medicine, Vol. 7, Núm. 5
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Biogeographical origin and timing of the founder ichthyosis TGM1 c.1187G > A mutation in an isolated Ecuadorian population
Scientific Reports, Vol. 9, Núm. 1
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Novel and recurrent PNPLA1 mutations in spanish patients with autosomal recessive congenital ichthyosis; Evidence of a founder effect
Acta Dermato-Venereologica, Vol. 99, Núm. 10, pp. 894-898