Publicacións en colaboración con investigadores/as de Consiglio Nazionale delle Ricerche (3)

2017

  1. Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci

    Nature Genetics, Vol. 49, Núm. 7, pp. 993-1004

2009

  1. Secondary disorders of glycosylation in inborn errors of fructose metabolism

    Journal of Inherited Metabolic Disease, Vol. 32, Núm. SUPPL. 1

  2. Site-dependent differences in both prelamin A and adipogenic genes in subcutaneous adipose tissue of patients with type 2 familial partial lipodystrophy

    Journal of Medical Genetics, Vol. 46, Núm. 1, pp. 40-48