prof. MUDr. Tomáš Freiberger, Ph.D.
Professor, Department of Clinical Immunology and Allergology
Total number of publications: 283
2020
-
Novel XIAP mutation causing enhanced spontaneous apoptosis and disturbed NOD2 signalling in a patient with atypical adult-onset Crohn's disease
CELL DEATH & DISEASE, year: 2020, volume: 11, edition: 6, DOI
-
Reducing the Clinical and Public Health Burden of Familial Hypercholesterolemia: A Global Call to Action
JAMA Cardiology, year: 2020, volume: 5, edition: 2, DOI
-
Splicing Enhancers at Intron-Exon Borders Participate in Acceptor Splice Sites Recognition
International Journal of Molecular Sciences, year: 2020, volume: 21, edition: 18, DOI
-
Stanovisko výboru České společnosti pro aterosklerózu k doporučením ESC/EAS pro diagnostiku a léčbu dyslipidemií z roku 2019
Cor et Vasa, year: 2020, volume: 62, edition: 2, DOI
-
The Clinical and Genetic Spectrum of 82 Patients WithRAGDeficiency Including a c.256_257delAA Founder Variant in Slavic Countries
Frontiers in Immunology, year: 2020, volume: 11, edition: June 2020, DOI
-
The splicing pattern of PLAUR gene changes during monocyte differentiation in patients with hereditary angioedema.
Year: 2020, type: Conference abstract
-
Transplantace kmenových buněk krvetvorby u pacientů s chronickou granulomatózní nemocí v České republice a na Slovensku.
Česko-Slovenská Pediatrie 2020, year: 2020, volume: 75, edition: 3
-
Trichohepatoenteric syndrome in a patient with TTC37 mutations – a case report
Gastroenterologie a hepatologie, year: 2020, volume: 74, edition: 6, DOI
-
TTC37 defective in the patient with very-early-onset IBD and septic shock
Year: 2020, type: Conference abstract
-
Validní zdroje informací o sekvenčních variantách lidského genomu na příkladu genu pro LDLR.
Year: 2020, type: Conference abstract