Publications
- ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability2023 | First Faculty of Medicine
- Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder2020 | First Faculty of Medicine
- Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver2012 | First Faculty of Medicine, Third Faculty of Medicine
- Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis2011 | First Faculty of Medicine
- Development of a human mitochondrial oligonucleotide microarray (h-MitoArray) and gene expression analysis of fibroblast cell lines from 13 patients with isolated FIFo ATP synthase deficiency2008 | First Faculty of Medicine
- TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy2008 | First Faculty of Medicine
- Rotor-type hyperbilirubinaemia has no defect in the canalicular bilirubin export pump2007 | First Faculty of Medicine, Third Faculty of Medicine
- Mutation in TMEM76 are associated with acetyl coenzyme A: Alfa-glucosaminide A acetyltransferase deficiency in mucopolysaccharidosis type IIIc patientsPublication without faculty affiliation
- H-MitoArray and gene expression analysis in 13 patients with mitochondrial ATP synthase deficiencyPublication without faculty affiliation
- Development of a human mitochondrial oligonucleotide microarray(H-MitoArray) and gene expression analysis in 13 patients with mitochondrial ATP synthase deficiencyPublication without faculty affiliation
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