Publicacións en colaboración con investigadores/as de University Medical Center Freiburg (3)

2017

  1. A case of mosaicism in ectodermal dysplasia–skin fragility syndrome

    British Journal of Dermatology

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

2013

  1. Molecular evidence of type 2 mosaicism in Gorlin syndrome

    British Journal of Dermatology, Vol. 169, Núm. 6, pp. 1342-1345