EA Alsat

An unbalanced translocation resulting in a duplication of Xq28 causes a Rett syndrome‐like phenotype in a female patient

T. Liehr, M. Shoukier, P. Burfeind, 2010, Clinical genetics.

Array CGH in patients with developmental delay or intellectual disability: are there phenotypic clues to pathogenic copy number variants?

M. Shoukier, J. Schröder, J. Gärtner, 2013, Clinical genetics.