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Mgr. Viktor Stránecký Ph.D.
Academic staff at First Faculty of Medicine
88 publications
Publications
publication
Spontaneous nonsense mutation in the tuftelin 1 gene is associated with abnormal hair appearance and amelioration of glucose and lipid metabolism in the rat
2024 |
First Faculty of Medicine, Third Faculty of Medicine, Central Library of Charles University
publication
Disruption of OVOL2 Distal Regulatory Elements as a Possible Mechanism Implicated in Corneal Endothelial Dystrophy
2024 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease
2023 |
First Faculty of Medicine, Third Faculty of Medicine, Central Library of Charles University, Second Faculty of Medicine
publication
Low Frequency of Cancer-Predisposition Gene Mutations in Liver Transplant Candidates with Hepatocellular Carcinoma
2023 |
First Faculty of Medicine, Central Library of Charles University, Faculty of Science
publication
Germline multigene panel testing of patients with endometrial cancer
2023 |
First Faculty of Medicine, Faculty of Medicine in Pilsen, Faculty of Science
publication
A new patient with congenital myasthenic syndrome type 20 due to compound heterozygous missense SLC5A7 variants suggests trends in genotype-phenotype correlation
2023 |
First Faculty of Medicine, Second Faculty of Medicine
publication
ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability
2023 |
First Faculty of Medicine
publication
ADAM22 ethnic-specific variant reducing binding of membrane-associated guanylate kinases causes focal epilepsy and behavioural disorder
2023 |
First Faculty of Medicine
publication
A mutation in the SAA1 promoter causes hereditary amyloid A amyloidosis
2022 |
First Faculty of Medicine, Third Faculty of Medicine
publication
AGAL misprocessing-induced ER stress and the unfolded protein response: lysosomal storage-independent mechanism of Fabry disease pathogenesis?
2022 |
First Faculty of Medicine, Third Faculty of Medicine
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