ℹ️
🇬🇧
Search
Search for people relevant for "c disease"
c disease
Person
Class
Person
Publication
Programmes
MUDr. Bohdan Kousal Ph.D.
Academic staff at First Faculty of Medicine
55 publications
Publications
publication
Children's Ophthalmology
2022 |
First Faculty of Medicine, Faculty of Medicine in Hradec Králové, Second Faculty of Medicine, Central Library of Charles University, Third Faculty of Medicine, Faculty of Medicine in Pilsen, Faculty of Education
publication
DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome
2022 |
First Faculty of Medicine
publication
Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy
2022 |
First Faculty of Medicine
publication
Pigmentary retinopathy can indicate the presence of pathogenic LAMP2 variants even in somatic mosaic carriers with no additional signs of Danon disease
2021 |
First Faculty of Medicine, Faculty of Medicine in Hradec Králové, Second Faculty of Medicine, Central Library of Charles University
publication
Diagnostic methods in cardiovascular diseases
2021 |
First Faculty of Medicine, Faculty of Medicine in Hradec Králové, Faculty of Medicine in Pilsen
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
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics
2020 |
First Faculty of Medicine
Load more publications (45)
Loading network view...