Publicaciones en las que colabora con Mara Toderici (2)

2020

  1. ALG12-CDG: An unusual patient without intellectual disability and facial dysmorphism, and with a novel variant

    Molecular Genetics and Genomic Medicine, Vol. 8, Núm. 8

2016

  1. Hypoglycosylation is a common finding in antithrombin deficiency in the absence of a SERPINC1 gene defect

    Journal of Thrombosis and Haemostasis, Vol. 14, Núm. 8, pp. 1549-1560