- Respiratory chain abnormalities in 13 children with 3-methylglutaconic aciduriaPublication without faculty affiliation
- Novel Mutations in the TAZ Gene in Patients with Barth Syndrome2013 | First Faculty of Medicine
- Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation2010 | First Faculty of Medicine
- Heart failure as initial manifestation of Barth syndrome2014 | First Faculty of Medicine
- TMEM70 deficiency: long-term outcome of 48 patients2015 | First Faculty of Medicine
- Late-presenting congenital diaphragmatic hernia in a child with TMEM70 deficiency2017 | First Faculty of Medicine