ℹ️
🇬🇧
Search
Search for people relevant for "Defect"
Defect
Person
Class
Person
Publication
Programmes
Export current view
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
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
publication
Story of the papilla - a case report
2015 |
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
publication
Optical cohorence tomography
2022 |
First Faculty of Medicine, Central Library of Charles University
Load more publications (45)
Loading network view...