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Mgr. Viktor Stránecký Ph.D.
Academic staff at First Faculty of Medicine
88 publications
Publications
publication
Rare copy number variation in extremely impulsively violent males
2019 |
First Faculty of Medicine, Central Library of Charles University, Faculty of Medicine in Pilsen
publication
De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay
2018 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes
2018 |
First Faculty of Medicine
publication
Heterozygous deletions at the ZEB1 locus verify haploinsufficiency as the mechanism of disease for posterior polymorphous corneal dystrophy type 3
2016 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Rare variants in known and novel candidate genes predisposing to statin-associated myopathy
2016 |
First Faculty of Medicine, Central Library of Charles University
publication
Large Copy-Number Variations in Patients With Statin-Associated Myopathy Affecting Statin Myopathy-Related Loci
2016 |
First Faculty of Medicine, Central Library of Charles University
publication
Validation of rs2956540:G > C and rs3735520:G > A association with keratoconus in a population of European descent
2015 |
First Faculty of Medicine, Second Faculty of Medicine
publication
A patient showing features of both SBBYSS and GPS supports the concept of a KAT6B-related disease spectrum, with mutations in mid-exon 18 possibly leading to combined phenotypes
2015 |
First Faculty of Medicine, Second Faculty of Medicine
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
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