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/25934484 (beliebiger Volltext)
Shaw.pdf (Verlagsversion), 532KB
Shaw, M., Yap, T. Y., Henden, L., Bahlo, M., Gardner, A., Kalscheuer, V. M., et al. (2015). Identical by descent L1CAM mutation in two apparently unrelated families with intellectual disability without L1 syndrome. European Journal of Medical Genetics, 58(6-7), 364-368. doi:10.1016/j.ejmg.2015.04.004.