prof. MUDr. Tomáš Freiberger, Ph.D.
Professor, Department of Clinical Immunology and Allergology
Total number of publications: 289
2019
-
Tandem acceptor splice site in the context of two closely located exons
Year: 2019, type: Appeared in Conference without Proceedings
-
The association between vegetation size and surgical treatment on 6-month mortality in left-sided infective endocarditis
European heart journal, year: 2019, volume: 40, edition: 27, DOI
-
The Impact of DNA Extraction Methods on Stool Bacterial and Fungal Microbiota Community Recovery
Frontiers in Microbiology, year: 2019, volume: 10, edition: 821, DOI
-
The Impact of the International Cooperation On Familial Hypercholesterolemia Screening and Treatment: Results from the ScreenPro FH Project
CURRENT ATHEROSCLEROSIS REPORTS, year: 2019, volume: 21, edition: 9, DOI
2018
-
A new deep intronic mutation caused aberrant splicing in a family diagnosed with hereditary angioedema
Year: 2018, type:
-
Analýza mykobiomu aneb chybami se člověk učí.
Year: 2018, type: Conference abstract
-
Artificial fungal community (fMOCK) as a control of sequencing process in mycobiome research.
Year: 2018, type: Conference abstract
-
Autosomal dominant hypercholesterolaemia
Year: 2018, type: Conference abstract
-
Clinical Genetic Testing for Familial Hypercholesterolemia
Journal of the American College of Cardiology, year: 2018, volume: 72, edition: 6, DOI
-
ClinVar database of global familial hypercholesterolemia-associated DNA variants
Human Mutation, year: 2018, volume: 39, edition: 11, DOI