Publikationen in Zusammenarbeit mit Forschern von University of Lubeck (2)

2015

  1. Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin–Siris and Nicolaides–Baraitser syndromes

    Human Genetics, Vol. 134, Núm. 6, pp. 553-568

2014

  1. Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

    Human Molecular Genetics, Vol. 23, Núm. 11, pp. 2888-2900