Kalscheuer, V. M. Chromosome Rearrangements and Disease (Vera Kalscheuer), Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society;
http://www.ncbi.nlm.nih.gov/pubmed/29264392 (beliebiger Volltext)
Hector.pdf (Verlagsversion), 453KB
Hector, R. D., Kalscheuer, V. M., Hennig, F., Leonard, H., Downs, J., Clarke, A., et al. (2017). CDKL5 variants: Improving our understanding of a rare neurologic disorder. Neurology Genetics, 3(6): e200. doi:10.1212/NXG.0000000000000200.