Publikationen in Zusammenarbeit mit Forschern von Copenhagen University Hospital (2)

2020

  1. Primrose syndrome: Characterization of the phenotype in 42 patients

    Clinical Genetics, Vol. 97, Núm. 6, pp. 890-901

2016

  1. The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome

    Clinical Genetics, Vol. 89, Núm. 6, pp. 733-738