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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
Clinical and Genetic Study of X-Linked Juvenile Retinoschisis in the Czech Population
2021 |
First Faculty of Medicine, Faculty of Medicine in Hradec Králové
publication
ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings
2021 |
First Faculty of Medicine
publication
Alu-mediated Xq24 deletion encompassing CUL4B, LAMP2, ATP1B4, TMEM255A, and ZBTB33 genes causes Danon disease in a female patient
2020 |
First Faculty of Medicine, Second Faculty of Medicine, Central Library of Charles University
publication
Dominant (Kjer's) optic atrophy associated with mutations in OPA1 gene
2020 |
First Faculty of Medicine
publication
Molecular genetic cause of achromatopsia in two patients of Czech origin
2019 |
First Faculty of Medicine, Central Library of Charles University
publication
Peripapillary microcirculation in Leber hereditary optic neuropathy
2019 |
First Faculty of Medicine
publication
SD-OCT imaging as a valuable tool to support molecular genetic diagnostics of Usher syndrome type 1
2018 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Leber hereditary optic neuropathy
2017 |
First Faculty of Medicine
publication
Clinical Tests Testing New Therapies for Stargardt Disease
2016 |
First Faculty of Medicine
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