Publications in collaboration with researchers from Radboud University Nijmegen Medical Centre (2)

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

2016

  1. CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation

    American Journal of Human Genetics, Vol. 98, Núm. 2, pp. 310-321