Associated Papers
Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort study.
Hebert A et al.
Elife, 2022
Mitochondrial protein dysfunction in pathogenesis of neurological diseases.
Wang L et al.
Frontiers in Molecular Neuroscience, 2022
Molecular mechanism of mitochondrial respiratory chain assembly and its relation to mitochondrial diseases.
Mukherjee S et al.
Mitochondrion, 2020
Mutated PET117 causes complex IV deficiency and is associated with neurodevelopmental regression and medulla oblongata lesions.
Renkema GH et al.
Human Genetics, 2017
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