European Society of Human Genetics, 43rd Meeting

Related content

• Projects

• Research at the interface between human genetics and reproduction.

  Project: Fundamental

• Development of diagnostic, biochemical and molecular methods, the prevention and the study of treatment of OXPHOS deficiency.

  Project: Fundamental

• Molecular investigations in the patients with defects in the complexes of the oxidative phosphorylation and the pyruvate dehydrogenase complex.

  Project: Fundamental

• Research output

• Leigh Syndrome with neonatal mild Complex IV deficiency caused by COX15 gene mutations

  Research output: Contribution to journal › Meeting abstract (Journal)