2019

1. Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain

   Clinical Genetics, Vol. 95, Núm. 5, pp. 615-626

2. Mutations in TIMM50 cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiology

   Human Mutation, Vol. 40, Núm. 10, pp. 1700-1712