Denise Horn
Institut für Medizinische Genetik und Humangenetik
Charité-Universitätsmedizin Berlin
Berlin
Germany
Name/email consistency: high
- Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: Expanded clinical spectrum. Horn, D., Krawitz, P., Mannhardt, A., Korenke, G.C., Meinecke, P. Am. J. Med. Genet. A (2011)
- Hyperphosphatasia with mental retardation, brachytelephalangy, and a distinct facial gestalt: Delineation of a recognizable syndrome. Horn, D., Schottmann, G., Meinecke, P. Eur. J. Med. Genet (2010)
- Minimal clinical expression of the holoprosencephaly spectrum and of Currarino syndrome due to different cytogenetic rearrangements deleting the Sonic Hedgehog gene and the HLXB9 gene at 7q36.3. Horn, D., Tönnies, H., Neitzel, H., Wahl, D., Hinkel, G.K., von Moers, A., Bartsch, O. Am. J. Med. Genet. A (2004)
- Familial MCA/MR syndrome due to inherited submicroscopic translocation t(18;21)(q22.1q21.3) with breakpoint at the Down syndrome critical region. Horn, D., Neitzel, H., Tönnies, H., Kalscheuer, V., Kunze, J., Hinkel, G.K., Bartsch, O. Am. J. Med. Genet. A (2003)
- Pigmentary mosaicism of the hyperpigmented type in two half-brothers. Horn, D., Happle, R., Neitzel, H., Kunze, J. Am. J. Med. Genet. (2002)
- Prenatal diagnosis in Coffin-Lowry syndrome demonstrates germinal mosaicism confirmed by mutation analysis. Horn, D., Delaunoy, J.P., Kunze, J. Prenat. Diagn. (2001)
