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/29511999 (Any fulltext)
Smol.pdf (Publisher version), 8MB
Smol, T., Petit, F., Piton, A., Keren, B., Sanlaville, D., Afenjar, A., et al. (2018). MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype. Neurogenetics, 1-11. doi:10.1007/s10048-018-0541-0.