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Molecular genetics
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MUDr. Bohdan Kousal Ph.D.
Academic staff at First Faculty of Medicine
55 publications
Publications
publication
Molecular genetic cause of achromatopsia in two patients of Czech origin
2019 |
First Faculty of Medicine, Central Library of Charles University
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
Clinical Tests Testing New Therapies for Stargardt Disease
2016 |
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
The molecular genetics and clinical findings in two probands with Stargardt Disease
2014 |
First Faculty of Medicine, Faculty of Physical Education and Sport
publication
Clinical Findings in Members of a Czech Family with Retinitis Pigmentosa Caused by the c.2426_2427delAG Mutation in RPGR
2013 |
First Faculty of Medicine, Faculty of Medicine in Hradec Králové, Faculty of Physical Education and Sport
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
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
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