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MUDr. Bohdan Kousal Ph.D.
Academic staff at First Faculty of Medicine
55 publications
Publications
publication
Modern diagnostic and therapeutic approaches in familial maculopathy with reference to North Carolina macular dystrophy
2022 |
First Faculty of Medicine, Faculty of Medicine in Hradec Králové
publication
Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy
2022 |
First Faculty of Medicine
publication
ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings
2021 |
First Faculty of Medicine
publication
Dominant (Kjer's) optic atrophy associated with mutations in OPA1 gene
2020 |
First Faculty of Medicine
publication
Leber hereditary optic neuropathy
2017 |
First Faculty of Medicine
publication
Phenotypic features of CRB1-associated early-onset severe retinal dystrophy and the different molecular approaches to identifying the disease-causing variants
2016 |
First Faculty of Medicine
publication
Severe retinal degeneration in women with a c .2543del mutation in ORF15 of the RPGR gene
2014 |
First Faculty of Medicine
publication
Retina
2023 |
First Faculty of Medicine, Faculty of Medicine in Hradec Králové, Third Faculty of Medicine
publication
MIR204 n.37C>T variant as a cause of chorioretinal dystrophy variably associated with iris coloboma, early-onset cataracts and congenital glaucoma
2023 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Case report: A rare variant m.4135T>C in the MT-ND1 gene leads to Leber hereditary optic neuropathy and altered respiratory chain supercomplexes
+1
2023 |
First Faculty of Medicine, Faculty of Science
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