Publikace
- Modern diagnostic and therapeutic approaches in familial maculopathy with reference to North Carolina macular dystrophy2022 | 1. lékařská fakulta, Lékařská fakulta v Hradci Králové
- Pigmentary retinopathy can indicate the presence of pathogenic LAMP2 variants even in somatic mosaic carriers with no additional signs of Danon disease2021 | 1. lékařská fakulta, Lékařská fakulta v Hradci Králové, 2. lékařská fakulta, Ústřední knihovna
- Impact of newborn screening and early dietary management on clinical outcome of patients with long chain 3-hydroxyacyl-coa dehydrogenase deficiency and medium chain acyl-coa dehydrogenase deficiency-a retrospective nationwide study2021 | 1. lékařská fakulta, 3. lékařská fakulta, Matematicko-fyzikální fakulta
- ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings2021 | 1. lékařská fakulta
- Dominantní (Kjerova) atrofie optiku asociovaná s mutacemi v OPA1 genu2020 | 1. lékařská fakulta
- Peripapillary microcirculation in Leber hereditary optic neuropathy2019 | 1. lékařská fakulta
- 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 | 1. lékařská fakulta
- Phenotypic features of CRB1-associated early-onset severe retinal dystrophy and the different molecular approaches to indentifying the disease-causing variants2016 | 1. lékařská fakulta, Fakulta tělesné výchovy a sportu
- Phenotypic features of CRB1-associated early-onset severe retinal dystrophy and the different molecular approaches to identifying the disease-causing variants2016 | 1. lékařská fakulta
- Severe retinal degeneration in women with a c .2543del mutation in ORF15 of the RPGR gene2014 | 1. lékařská fakulta
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