prof. MUDr. Tomáš Freiberger, Ph.D.

2020

• Effect of intronic mutations on pseudoexon inclusion

  SVOBODOVÁ Eliška SOUČEK Přemysl FREIBERGER Tomáš GRODECKÁ Lucie

  Conference abstract

  Year: 2020, type: Conference abstract

• EuroFlow Standardized Approach to Diagnostic Immunopheneotyping of Severe PID in Newborns and Young Children

  KALINA T. BAKARDJIEVA M. BLOM M. PEREZ-ANDRES M. BARENDREGT B. KANDEROVA V. BONROY C. PHILIPPE J. BLANCO E. PICO-KNIJNENBURG I. PAPING J. H. M. P. WOLSKA-KUSNIERZ B. PAC M. TKAZCYK J. HAERYNCK F. AKAR H. H. FORMANKOVA R. FREIBERGER Tomáš SVATORI M. SEDIVA A. ARRIBA-MENDEZ S. ORFAO A. VAN DONGEN J. J. M. VAN DER BURG M.

  Article in Periodical

  Frontiers in Immunology, year: 2020, volume: 11, edition: MAR 2020, DOI

• Genetics of Familial Hypercholesterolemia: New Insights

  VRABLIK Michal TICHY Lukas FREIBERGER Tomáš BLAHA Vladimir SATNY Martin HUBACEK Jaroslav A.

  Article in Periodical

  Frontiers in Genetics, year: 2020, volume: 11, edition: OCT 2020, DOI

• International Society of Cardiovascular Infectious Diseases Guidelines for the Diagnosis, Treatment and Prevention of Disseminated Mycobacterium chimaera Infection Following Cardiac Surgery with Cardiopulmonary Bypass

  HASSE B. HANNAN M. M. KELLER P. M. MAURER F. P. SOMMERSTEIN R. MERTZ D. WAGNER D. FERNANDEZ-HIDALGO N. NOMURA J. MANFRIN V. BETTEX D. CONTE A. H. DURANTE-MANGONI E. TANG T. H. C. STUART R. L. LUNDGREN J. GORDON S. JARASHOW M. C. SCHREIBER P. W. NIEMANN S. KOHL T. A. DALEY C. L. STEWARDSON A. J. WHITENER C. J. PERKINS K. PLACHOURAS D. LAMAGNI T. CHAND M. FREIBERGER Tomáš ZWEIFEL S. SANDER P. SCHULTHESS B. SCRIVEN J. E. SAX H. VAN INGEN J. MESTRES C. A. DIEKEMA D. BROWN-ELLIOTT B. A. WALLACE R. J. BADDOUR L. M. MIRO J. M. HOEN B.

  Article in Periodical

  The journal of hospital infection, year: 2020, volume: 104, edition: 2, DOI

• Low Density Lipoprotein Receptor Variants in the Beta-Propeller Subdomain and Their Functional Impact

  DUŠKOVÁ Lucie NOHELOVÁ Lucie LOJA Tomáš FIALOVÁ Jana ZAPLETALOVÁ Petra RÉBLOVÁ Kamila TICHÝ Lukáš FREIBERGER Tomáš FAJKUSOVÁ Lenka

  Article in Periodical

  Frontiers in Genetics, year: 2020, volume: 11, edition: JUN 2020, DOI

• Mendelian Susceptibility to Mycobacterial Disease: The First Case of a Diagnosed Adult Patient in the Czech Republic

  PRUCHA Miroslav GROMBIŘÍKOVÁ Hana ZDRAHAL Pavel BLOOMFIELD Marketa PARACKOVA Zuzana FREIBERGER Tomáš

  Article in Periodical

  CASE REPORTS IN IMMUNOLOGY, year: 2020, volume: 2020, edition: DEC 2020, DOI

• Novel XIAP mutation causing enhanced spontaneous apoptosis and disturbed NOD2 signalling in a patient with atypical adult-onset Crohn's disease

  PARACKOVA Zuzana MILOTA Tomas VRABCOVA Petra SMETANOVA Jitka SVATON Michael FREIBERGER Tomáš KANDEROVA Veronika SEDIVA Anna

  Article in Periodical

  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

  WILEMON K. A. PATEL J. AGUILAR-SALINAS C. AHMED C. D. ALKHNIFSAWI M. ALMAHMEED W. ALONSO R. AL-RASADI K. BADIMON L. BERNAL L. M. BOGSRUD M. P. BRAUN L. T. BRUNHAM L. CATAPANO A. L. CILLIKOVA K. CORRAL P. CUEVAS R. DEFESCHE J. C. DESCAMPS O. S. DE FERRANTI S. EISELE J. L. ELIKIR G. FOLCO E. FREIBERGER Tomáš FUGGETTA F. GASPAR I. M. GESZTES A. G. GROSELJ U. HAMILTON-CRAIG I. HANAUER-MADER G. HARADA-SHIBA M. HASTINGS G. HOVINGH G. K. IZAR M. C. JAMISON A. KARLSSON G. N. KAYIKCIOGLU M. KOOB S. KOSEKI M. LANE S. LIMA-MARTINEZ M. M. LOPEZ G. MARTINEZ T. L. MARAIS D. MARION L. MATA P. MAURINA I. MAXWELL D. MEHTA R. MENSAH G. A. MISEREZ A. R. NEELY D. NICHOLLS S. J. NOHARA A. NORDESTGAARD B. G. OSE L. PALLIDIS A. PANG J. PAYNE J. PETERSON A. L. POPESCU M. P. PURI R. RAY K. K. REDA A. SAMPIETRO T. SANTOS R. D. SCHALKERS I. SCHREIER L. SHAPIRO M. D. SIJBRANDS E.. SOFFER D. STEFANUTTI C. STOLL M. SY R. G. TAMAYO M. L. TILNEY M. K. TOKGOZOGLU L. TOMLINSON B. VALLEJO-VAZ A. J. VAZQUEZ-CARDENAS A. DE LUCA P. V. WALD D. S. WATTS G. F. WENGER N. K. WOLF M. WOOD D. ZEGERIUS A: GAZIANO T. A. GIDDING S. S.

  Article in Periodical

  JAMA Cardiology, year: 2020, volume: 5, edition: 2, DOI

• Splicing Enhancers at Intron-Exon Borders Participate in Acceptor Splice Sites Recognition

  KOVÁČOVÁ Tatiana SOUČEK Přemysl HUJOVÁ Pavla FREIBERGER Tomáš GRODECKÁ Lucie

  Article in Periodical

  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

  VRABLIK Michal PITHA Jan BLAHA Vladimir CIFKOVA Renata FREIBERGER Tomáš KARASEK David KRAML Pavel ROSOLOVA Hana SOŠKA Vladimír STULC Tomas URBANOVA Zuzana

  Article in Periodical

  Cor et Vasa, year: 2020, volume: 62, edition: 2, DOI