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Mutation
Person
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Person
Publication
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Ing. Aleš Hořínek
External person at First Faculty of Medicine
117 publications
Publications
publication
Application of the new insertion-deletion polymorphism kit for forensic identification and parentage testing on the Czech population
2013 |
First Faculty of Medicine, Faculty of Medicine in Pilsen
publication
APOA5 Ala315 > Val, identified in patients with severe hypertriglyceridemia, is a common mutation with no major effects on plasma lipid levels
2008 |
First Faculty of Medicine
publication
Familiar dysbetalipoproteinaemia and structural variant of ApoE2 (Arg136-Cys)
Publication without faculty affiliation
publication
Rapid non-invasive prenatal screening test for trisomy 21 based on digital droplet PCR
2023 |
First Faculty of Medicine
publication
Small non-coding RNA profiling in breast cancer: plasma U6 snRNA, miR-451a and miR-548b-5p as novel diagnostic and prognostic biomarkers
2022 |
First Faculty of Medicine, Central Library of Charles University
publication
Snail Track Lesion with Flat Keratometry in Anterior Segment Dysgenesis Caused by a Novel FOXC1 Variant
2022 |
First Faculty of Medicine
publication
Optimization of diagnostic strategy for non-invasive cell-free foetal RHD determination from maternal plasma
2021 |
First Faculty of Medicine
publication
Genome-wide miRNA profiling in plasma of pregnant women with down syndrome fetuses
2020 |
First Faculty of Medicine
publication
The utility of massively parallel sequencing for posterior polymorphous corneal dystrophy type 3 molecular diagnosis
2019 |
First Faculty of Medicine, Third Faculty of Medicine
publication
Ascites-Derived Extracellular microRNAs as Potential Biomarkers for Ovarian Cancer
2019 |
First Faculty of Medicine
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