- Variegate porfihyria childhood: compound heterozygosity in protoporhyrinogen oxidase genePublication without faculty affiliation
- Variegate Porphyria in Early Childhood: Compound Heterozygosity in Protoporphyrinogen Oxidase GenePublication without faculty affiliation
- Compound heterozygosity for a Wolman mutation is frequent among patients with cholesteryl ester storage disease2000 | First Faculty of Medicine
- Identification of two compound heterozygous VPS13A large deletions in chorea-acanthocytosis only by protein and quantitative DNA analysis2020 | First Faculty of Medicine
- Increased Risk of Malignancies in Heterozygotes in Families of Patients with Nijmegen Breakage Syndrome2006 | Second Faculty of Medicine
- Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency2012 | First Faculty of Medicine
- A Newly Observed Mutation of the ABCA3 Gene Causing Lethal Respiratory Failure of a Full-Term Newborn: A Case Report2020 | First Faculty of Medicine
- Attenuated Adenylosuccinate Lyase Deficiency: A Report of One Case and a Review of the Literature2014 | First Faculty of Medicine
- A new patient with congenital myasthenic syndrome type 20 due to compound heterozygous missense SLC5A7 variants suggests trends in genotype-phenotype correlation2023 | First Faculty of Medicine, Second Faculty of Medicine
- A unique case of Bloom syndrome with a combination of genetic hits: A lesson from trio-based exome sequencing: A case report2023 | Second Faculty of Medicine
- Analysis of KERA in four families with cornea plana identifies two novel mutations2018 | First Faculty of Medicine
- ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings2021 | First Faculty of Medicine
- Mucolipidosis IV: report of a case with ocular restricted phenotype caused by leaky splice mutation2007 | First Faculty of Medicine
- Mucolipidosis IV: Report of a case with ocular restricted phenotype caused by leaky splice mutation2007 | Second Faculty of Medicine
- WARS2 mutations cause dopa-responsive early-onset parkinsonism and progressive myoclonus ataxia2022 | First Faculty of Medicine
- Effectiveness of sequencing selected exons of DNAH5 and DNAI1 in diagnosis of primary ciliary dyskinesia2012 | Second Faculty of Medicine
- Progressive familial intrahepatic cholestasis in adulthood: 60 years' follow-up2020 | First Faculty of Medicine, Third Faculty of Medicine
- Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion2007 | First Faculty of Medicine
- Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes2022 | First Faculty of Medicine