DOI,IST REx ID,Title of publication
10.1016/j.gim.2023.100938,14368,"Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder"
10.1016/j.gim.2022.07.013,14355,A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease