Publikationen in Zusammenarbeit mit Forschern von Hospital Virgen de la Arrixaca (11)

2017

  1. Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia

    Journal of Human Genetics, Vol. 62, Núm. 3, pp. 355-360

2016

  1. Clinical and genetic characterization of congenital hyperinsulinism in Spain

    European Journal of Endocrinology, Vol. 174, Núm. 6, pp. 717-726

1998

  1. Clinical heterogeneity associated with mitochondrial DNA depletion in muscle

    Neuromuscular Disorders, Vol. 8, Núm. 8, pp. 568-573