Navegar por autor "Ginarte Val, Manuel Javier"

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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, Martha; Saraiva Esperón, Uxía; Rodríguez Pazos, Laura; Ordóñez‐Ugalde, Andrés; Moscoso, Fernanda; [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.]
Derivaciones no justificadas en un servicio de Dermatología: estudio transversal en un hospital de tercer nivel

2020- Pérez Feal, Patricia; Ginarte Val, Manuel Javier; Vázquez Veiga, Hugo Alberto
Multiple Local and Recent Founder Effects of TGM1 in Spanish Families

2012- Fachal Vilar, Laura; Rodríguez Pazos, Laura; Ginarte Val, Manuel Javier; Toribio Pérez, Jaime; Salas Ellacuriaga, Antonio; [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.]