Publications

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2019
Rius, R. et al. Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic Variants. J Clin Med 8, (2019).
2016
Heimer, G. et al. MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder. Am J Hum Genet 99, 1229-1244 (2016).