Publikace
- Mucolipidosis IV: report of a case with ocular restricted phenotype caused by leaky splice mutation2007 | 1. lékařská fakulta
- Disruption of OVOL2 Distal Regulatory Elements as a Possible Mechanism Implicated in Corneal Endothelial Dystrophy2024 | 1. lékařská fakulta, 2. lékařská fakulta
- Lisch Epithelial Corneal Dystrophy Is Caused by Heterozygous Loss-of-Function Variants in MCOLN12024 | 1. lékařská fakulta
- Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease2023 | 1. lékařská fakulta, 3. lékařská fakulta, 2. lékařská fakulta, Ústřední knihovna
- Axenfeld-Rieger syndrome: more than meets the eye2023 | 1. lékařská fakulta, 2. lékařská fakulta
- Phenotype and genotype of concurrent keratoconus and Fuchs endothelial corneal dystrophy2023 | 1. lékařská fakulta, 3. lékařská fakulta
- MIR204 n.37C>T variant as a cause of chorioretinal dystrophy variably associated with iris coloboma, early-onset cataracts and congenital glaucoma2023 | 1. lékařská fakulta, 2. lékařská fakulta
- Case report: A rare variant m.4135T>C in the MT-ND1 gene leads to Leber hereditary optic neuropathy and altered respiratory chain supercomplexes +12023 | 1. lékařská fakulta, Přírodovědecká fakulta
- Two novel variants of the MBTPS1 gene in Czech family with Kondo-Fu type spondyloepiphyseal dysplasia and cataract2023 | 1. lékařská fakulta, 2. lékařská fakulta
- Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction2023 | 1. lékařská fakulta
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