Mutations in GTPBP3 Cause a Mitochondrial Translation Defect Associated with Hypertrophic Cardiomyopathy, Lactic Acidosis, and EncephalopathyRobert Kopajtich, Michal Minczuk, Peter Freisinger et al.|The American Journal of Human Genetics|2014Cited by 157
Defining the phenotypical spectrum associated with variants in <i>TUBB2A</i>Stefanie Brock, Katrien Stouffs, Tim Vanderhasselt et al.|Journal of Medical Genetics|2020Cited by 32