prof. MUDr. Tomáš Freiberger, Ph.D.

2017

• Contribution of PCR Denaturing Gradient Gel Electrophoresis Combined with Mixed Chromatogram Software Separation for Complex Urinary Sample Analysis

  KOTÁSKOVÁ Iva MALIŠOVÁ Barbora OBRUČOVÁ Hana HOLÁ Veronika PEROUTKOVÁ Tereza RŮŽIČKA Filip FREIBERGER Tomáš

  Article in Periodical

  Journal of Molecular Microbiology and Biotechnology, year: 2017, volume: 27, edition: 6, DOI

• Detailed molecular characterization of a novel IDS exonic mutation associated with multiple pseudoexon activation

  GRODECKÁ Lucie KOVÁČOVÁ Tatiana KRAMÁREK Michal SENECA S. STOUFFS K. DE LAET C. MAJER F. KRŠJAKOVÁ Tereza HUJOVÁ Pavla HRNČÍŘOVÁ Kristýna SOUČEK Přemysl LISSENS W. BURATTI E. FREIBERGER Tomáš

  Article in Periodical

  JOURNAL OF MOLECULAR MEDICINE-JMM, year: 2017, volume: 95, edition: 3, DOI

• Dynamic of human gut mycobiome in liver-transplant recipients

  FIEDOROVÁ Kristýna GROMBIŘÍKOVÁ Hana NĚMCOVÁ Eva ČERNOCHOVÁ Michaela OBRUČOVÁ Hana FREIBERGER Tomáš

  Conference abstract

  Year: 2017, type: Conference abstract

• Familial Hypercholesterolemia in the Czech Republic: More Than 17 Years of Systematic Screening Within the MedPed Project

  VRABLIK M. VACLOVA M. TICHÝ Lukáš SOŠKA Vladimír BLAHA V. FAJKUSOVÁ Lenka CESKA R. SATNY M. FREIBERGER Tomáš

  Article in Periodical

  Physiological research, year: 2017, volume: 66, edition: Suppl. 1

• First report of Sneathia sanguinegens together with Mycoplasma hominis in postpartum prosthetic valve infective endocarditis: a case report

  KOTÁSKOVÁ Iva NĚMEC Petr VANĚRKOVÁ Martina MALIŠOVÁ Barbora TEJKALOVÁ Renata ORBAN Marek ŽAMPACHOVÁ Víta FREIBERGER Tomáš

  Article in Periodical

  BMC INFECTIOUS DISEASES, year: 2017, volume: 17, edition: August, DOI

• Fluorescent capillary electrophoresis as a tool for detection of fungi on urinary catheters and ureteral stents

  FREIBERGER Tomáš OBRUČOVÁ Hana KOTÁSKOVÁ Iva MALIŠOVÁ Barbora RŮŽIČKA Filip HOLÁ Veronika

  Conference abstract

  Year: 2017, type: Conference abstract

• Gastrointestinal microbiome in patients with primary immune deficiencies

  FIEDOROVÁ Kristýna BOSÁK Juraj ZWINSOVÁ Barbora LEXA Matej LITZMAN Jiří FREIBERGER Tomáš ŠMAJS David

  Conference abstract

  Year: 2017, type: Conference abstract

• HAE caused by a novel deep intronic mutation in SERPING1 indroducing a cryptic exon.

  GROMBIŘÍKOVÁ Hana HUJOVÁ Pavla SOUČEK Přemysl GRODECKÁ Lucie RAVČUKOVÁ Barbora KOVÁČOVÁ Tatiana KRSJAKOVA T KUKLÍNEK Pavel HAKL Roman LITZMAN Jiří FREIBERGER Tomáš

  Conference abstract

  Year: 2017, type: Conference abstract

• Mutations of Pre-mRNA Splicing Regulatory Elements: Are Predictions Moving Forward to Clinical Diagnostics?

  GRODECKA Lucie BURATTI Emanuele FREIBERGER Tomáš

  Article in Periodical

  International Journal of Molecular Sciences, year: 2017, volume: 18, edition: 8, DOI

• New deep intronic mutation c.1029+384 A>G in SERPING1 gene creates de novo donor splice site and causes aberrant splicing

  HUJOVÁ Pavla GROMBIŘÍKOVÁ Hana SOUČEK Přemysl GRODECKÁ Lucie RAVČUKOVÁ Barbora KUKLÍNEK Pavel HAKL Roman FREIBERGER Tomáš

  Conference abstract

  Year: 2017, type: Conference abstract