publication venue for
- Cohen syndrome and early-onset epileptic encephalopathy in male triplets: two disease-causing mutations in VPS13B and NAPB.. 24. 2023
- A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activity.. 20. 2019
- Dysregulation of large-conductance Ca2+-activated K+ channel expression in nonsyndromal mental retardation due to a cereblon p.R419X mutation.. 9. 2008