- The restructuring of dopamine receptor subtype gene transcripts in c-fos KO mice2012 | First Faculty of Medicine
- Gastric hyperplasia in mice with targeted disruption of the carbonic anhydrase gene Car92002 | Third Faculty of Medicine
- Alagille Syndrome Mimicking Biliary Atresia in Early Infancy2015 | Second Faculty of Medicine
- Clinical variability and expression of the NBN c.657del5 allele in Nijmegen Breakage Syndrome2009 | Second Faculty of Medicine
- Prevalence of mutations in AGPAT2 among human lipodystrophies2003 | Second Faculty of Medicine
- Cancer incidence in Nijmegen breakage syndrome is modulated by the amount of a variant NBS protein2007 | Second Faculty of Medicine
- Life-Long Correction of Hyperbilirubinemia with a Neonatal Liver-Specific AAV-Mediated Gene Transfer in a Lethal Mouse Model of Crigler-Najjar Syndrome2014 | First Faculty of Medicine
- Corticofugal and Brainstem Functions Associated With Medial Olivocochlear Cholinergic Transmission2022 | Third 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
- Atypical CLN2 with later onset and prolonged course: a neuropathologic study showing different sensitivity of neuronal subpopulations to TPP1 deficiency2008 | Second Faculty of Medicine
- Specific Cooperation Between Imp-alpha 2 and Imp-beta/Ketel in Spindle Assembly During Drosophila Early Nuclear Divisions2012 | First Faculty of Medicine
- Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families2008 | Second Faculty of Medicine
- Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations2008 | Second Faculty of Medicine