Publicaciones en colaboración con investigadores/as de Hospital de Clínicas de Porto Alegre (2)

2015

  1. Identification of a premature stop codon mutation in the PHGDH gene in severe Neu-Laxova syndrome-evidence for phenotypic variability

    American Journal of Medical Genetics, Part A, Vol. 167, Núm. 6, pp. 1323-1329

2014

  1. New microdeletion and microduplication syndromes: A comprehensive review

    Genetics and Molecular Biology, Vol. 37, Núm. 1 SUPPL. 1, pp. 210-219