K. Schubert

发表

A novel m.7539C>T point mutation in the mt-tRNAAsp gene associated with multisystemic mitochondrial disease

Robert W. Taylor, S. Zierz, P. Joshi, 2015, Neuromuscular Disorders.

Pathogenic mitochondrial mt-tRNAAla variants are uniquely associated with isolated myopathy

Robert W. Taylor, S. Zierz, P. Joshi, 2015, European Journal of Human Genetics.