- Absence of MMACHC in peripheral retinal cells does not lead to an ocular phenotype in mice2021 | First Faculty of Medicine
- Non-Penetrance for Ocular Phenotype in Two Individuals Carrying Heterozygous Loss-of-Function ZEB1 Alleles2021 | First Faculty of Medicine
- Variable ocular phenotypes of posterior polymorphous corneal dystrophy caused by mutations in the ZEB1 gene2010 | First Faculty of Medicine
- Blepharophimosis-ptosis-epicanthus inversus2016 | First Faculty of Medicine
- Should Patients with Kearns -Sayre Syndrome and Corneal Endothelial Failure Be Genotyped for a TCF4 Trinucleotide Repeat,Commonly Associated with Fuchs Endothelial Corneal Dystrophy2021 | First Faculty of Medicine
- Ophthalmological aspects of Pierson syndrome2008 | Second Faculty of Medicine
- Review of SRD5A3 Disease-Causing Sequence Variants and Ocular Findings in Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation, and a Detailed New Case2019 | First Faculty of Medicine
- Should Patients with Kearns-Sayre Syndrome and Corneal Endothelial Failure Be Genotyped for a TCF4 Trinucleotide Repeat, Commonly Associated with Fuchs Endothelial Corneal Dystrophy?2021 | First Faculty of Medicine
- Analysis of KERA in four families with cornea plana identifies two novel mutations2018 | First Faculty of Medicine
- Enzyme Replacement Therapy Ameliorates Multiple Symptoms of Murine Homocystinuria2018 | First Faculty of Medicine
- Phenotypic features of CRB1-associated early-onset severe retinal dystrophy and the different molecular approaches to identifying the disease-causing variants2016 | First Faculty of Medicine