FACULTAD DE CIENCIAS DE LA SALUD (SO)
Centro
Radboud University Nijmegen Medical Centre
Nimega, HolandaPublicaciones en colaboración con investigadores/as de Radboud University Nijmegen Medical Centre (3)
2023
2019
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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
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CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation
American Journal of Human Genetics, Vol. 98, Núm. 2, pp. 310-321