Publikationen in Zusammenarbeit mit Forschern von University of Innsbruck (3)

2018

  1. The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants [version 1; referees: 3 approved]

    Wellcome Open Research, Vol. 3

2013

  1. A comprehensive molecular study on coffin-siris and nicolaides-baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling

    Human Molecular Genetics, Vol. 22, Núm. 25, pp. 5121-5135

2007

  1. Clinical and molecular phenotype of Aicardi-Goutières syndrome

    American Journal of Human Genetics, Vol. 81, Núm. 4, pp. 713-725