Browse by Author "Esperón Moldes, Uxía Saraiva"

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A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype-phenotype correlations

2019- Montalván-Suárez, M.; Esperón Moldes, Uxía Saraiva; Rodríguez Pazos, Laura; Ordoñez Ugalde, Andrés; Moscoso, F.; [et al.]
Biogeographical origin and timing of the founder ichthyosis TGM1 c.1187G > A mutation in an isolated Ecuadorian population

2019- Esperón Moldes, Uxía Saraiva; Pardo Seco, Jacobo José; Montalván-Suárez, M.; Fachal Vilar, Laura; Ginarte Val, Manuel Javier; [et al.]
Novel CYP4F22 mutations associated with autosomal recessive congenital ichthyosis (ARCI). Study of the CYP4F22 c.1303C>T founder mutation

2020- Esperón Moldes, Uxía Saraiva; Ginarte Val, Manuel Javier; Rodríguez Pazos, Laura; Fachal Vilar, Laura; Martín-Santiago, A.; [et al.]
Novel CYP4F22 mutations associated with autosomal recessive congenital ichthyosis (ARCI). Study of the CYP4F22 c.1303C>T founder mutation

2020- Esperón Moldes, Uxía Saraiva; Ginarte Val, Manuel Javier; Rodriguez-Pazos, L; Fachal Vilar, Laura; Martin-Santiago, A; [et al.]