Publicacións en colaboración con investigadores/as de Hospital Universitario Marqués de Valdecilla (26)

2019

  1. Cribado neonatal

    Pediatria Integral, Vol. 23, Núm. 3, pp. 169.e1-169.e10

  2. Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry

    Journal of Inherited Metabolic Disease, Vol. 42, Núm. 2, pp. 333-352

  3. Septo-optic dysplasia caused by a novel FLNA splice site mutation: A case report

    BMC Medical Genetics, Vol. 20, Núm. 1