Kalscheuer, V. M. Chromosome Rearrangements and Disease (Vera Kalscheuer), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society;
Isrie.pdf (Publisher version), 698KB
Isrie, M., Kalscheuer, V. M., Holvoet, M., Fieremans, N., Van Esch, H., & Devriendt, K. (2013). HUWE1 mutation explains phenotypic severity in a case of familial idiopathic intellectual disability. European Journal of Medical Genetics, 56(7), 379-382. doi:10.1016/j.ejmg.2013.05.005.