doc. RNDr. Lenka Fajkusová, CSc.

2014

• Protein folding disease: Familiar Hypercholesterolemia

  PAVLOUŠKOVÁ Jana TICHÝ Lukáš FREIBERGER Tomáš FAJKUSOVÁ Lenka

  Conference abstract

  Year: 2014, type: Conference abstract

• Současné možnosti genetické diagnostiky neuromuskulárních nemocí v CMBGT FN Brno.

  STEHLÍKOVÁ Kristýna SKÁLOVÁ Daniela FAJKUSOVÁ Lenka

  Conference abstract

  Year: 2014, type: Conference abstract

• The extension of molecular genetic diagnostics of congenital adrenal hyperplasia in the Czech Republic

  ŠILEROVÁ Pavla VRZALOVÁ Zuzana HRABINCOVÁ Eva POUCHLÁ S. HRUBÁ Zuzana FAJKUSOVÁ Lenka

  Conference abstract

  Year: 2014, type: Conference abstract

• Variant within the apolipoprotein B and its role in pseudo-FH development

  FELLNEROVÁ A. DLOUHÁ D. HUBÁČEK Josef TICHÝ Lukáš FAJKUSOVÁ Lenka FREIBERGER Tomáš

  Conference abstract

  Year: 2014, type: Conference abstract

• Využití sequence capture v DNA diagnostice neuromuskulárních onemocnění

  STEHLÍKOVÁ Kristýna SKÁLOVÁ Daniela ZAPLETALOVÁ Petra HRUBÁ Zuzana FAJKUSOVÁ Lenka

  Conference abstract

  Year: 2014, type: Conference abstract

2013

• Atypický priebeh Smithovho-Lemliho-Opitzovho syndrómu s genotypom W326L/S397L

  SKOKŇOVÁ M. BEHÚLOVÁ D. TICHÁ L. PRIBILINCOVÁ Z. FAJKUSOVÁ Lenka CHANDOGA J. VALOVIČOVÁ M. BZDÚCH V.

  Conference abstract

  Year: 2013, type: Conference abstract

• Cardio-Ankle Vascular Index in Subjects with Dyslipidaemia and Other Cardiovascular Risk Factors

  SOŠKA Vladimír FRANTISOVÁ Michaela DOBŠÁK Petr DUŠEK Ladislav JARKOVSKÝ Jiří NOVÁKOVÁ Marie SHIRAI Kohji FAJKUSOVÁ Lenka FREIBERGER Tomáš

  Article in Periodical

  JOURNAL OF ATHEROSCLEROSIS AND THROMBOSIS, year: 2013, volume: 20, edition: 5, DOI

• CLCN1 Mutations in Czech Patients with Myotonia Congenita, In Silico Analysis of Novel and Known Mutations in the Human Dimeric Skeletal Muscle Chloride Channel

  SKÁLOVÁ Daniela ZÍDKOVÁ Jana VOHÁŇKA Stanislav MAZANEC Radim MUŠOVÁ Zuzana VONDRÁČEK Petr MRÁZOVÁ Lenka KRAUS Josef RÉBLOVÁ Kamila FAJKUSOVÁ Lenka

  Article in Periodical

  PLOS ONE, year: 2013, volume: 8, edition: 12, DOI

• Diagnostika neuromuskulárních chorob pomocí Sequence Capture - Targeted resequencing

  STEHLÍKOVÁ Kristýna SKÁLOVÁ Daniela FAJKUSOVÁ Lenka

  Requested lectures

  Year: 2013, type: Requested lectures

• Hyperphenylalaninemia in the Czech Republic: Genotype-phenotype correlations and in silico analysis of novel missense mutations

  RÉBLOVÁ Kamila HRUBÁ Zuzana PROCHÁZKOVÁ Dagmar PAZDÍRKOVÁ Renata POUCHLÁ Slávka FAJKUSOVÁ Lenka

  Article in Periodical

  Clinica Chimica Acta, year: 2013, volume: 419, edition: APR 18, DOI