Publikationen in Zusammenarbeit mit Forschern von McGill University (2)

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

2012

  1. Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly

    American Journal of Human Genetics, Vol. 90, Núm. 2, pp. 369-377