Isshiki M et al.
Plos Genetics, 2025
Bulakh M et al.
Gene, 2024
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Diniz G et al.
Pediatric Neurology, 2014
Chen YW et al.
The Journal of Cell Biology, 2000
Carrié A et al.
Journal of Medical Genetics, 1997