Publikationen von M. Hambrock
Alle Typen
Zeitschriftenartikel (4)
1.
Zeitschriftenartikel
21 (1), S. 133 - 148 (2016)
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes. Molecular Psychiatry 2.
Zeitschriftenartikel
14 (9), S. 911 - 923 (2012)
CDKL5 ensures excitatory synapse stability by reinforcing NGL-1-PSD95 interaction in the postsynaptic compartment and is impaired in patient iPSC-derived neurons. Nature Cell Biology 3.
Zeitschriftenartikel
12 (2), S. 165 - 7 (2011)
Identification of a novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, early-onset seizures and Rett-like features. Neurogenetics 4.
Zeitschriftenartikel
4, S. e7471 - e7471 (2009)
Point mutations in GLI3 lead to misregulation of its subcellular localization. PLoS ONE