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compound heterozygote
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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
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
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
publication
Optical cohorence tomography
2022 |
First Faculty of Medicine, Central Library of Charles University
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
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
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