doc. RNDr. Lenka Fajkusová, CSc.

2011

• Plasma HDL-cholesterol and triglyceride levels in familial hypercholesterolemia: Data from the MedPed CZ database and the Czech population

  SOŠKA Vladimír FREIBERGER Tomáš CIFKOVÁ Renata LÁNSKÁ Věra VRABLÍK Michal FAJKUSOVÁ Lenka ČEŠKA Richard

  Article in Periodical

  Clinica Chimica Acta, year: 2011, volume: 412, edition: 11-12, DOI

• Spectrum of ClCN1 and SCN4A mutations in Czech patients with non-dystrophic myotonias

  FAJKUSOVÁ Lenka PÁCLOVÁ Daniela ZÍDKOVÁ Jana VOHÁŇKA Stanislav MAZANEC R VONDRÁČEK Petr HERMANOVÁ M

  Conference abstract

  Year: 2011, type: Conference abstract

• Spectrum of CLCN1 and SCN4A mutations in Czech patients with non-dystrophic myotonias.

  PÁCLOVÁ Daniela SEDLÁČKOVÁ Jana VOHÁŇKA Stanislav MAZANEC FAJKUSOVÁ Lenka

  Conference abstract

  Year: 2011, type: Conference abstract

• Spectrum of point mutations in Czech DMD/BMD patients and their phenotypic outcome

  ZAPLETALOVÁ Eva SEDLÁČKOVÁ Jana HERMANOVÁ M. ZÁMEČNÍK J. FAJKUSOVÁ Lenka

  Conference abstract

  Year: 2011, type: Conference abstract

• The molecular diagnostics of familial hypercholesterolemia in Czech Republic.

  TICHÝ Lukáš ZAPLETALOVÁ Petra ZAPLETALOVÁ Eva STEHLÍKOVÁ Kristýna LETOCHA Ondřej PORUPKOVÁ Jitka FREIBERGER Tomáš FAJKUSOVÁ Lenka

  Conference abstract

  Year: 2011, type: Conference abstract

2010

• Analysis of the COL7A1 gene in Czech patients with dystrophic epidermolysis bullosa reveals novel

  JEŘÁBKOVÁ Barbora KOPEČKOVÁ Lenka BUČKOVÁ Hana VESELÝ Karel VALÍČKOVÁ Jana FAJKUSOVÁ Lenka

  Article in Periodical

  Journal of Dermatological Science, year: 2010, volume: 59, edition: 2, DOI

• Analysis of the COL7A1 gene in Czech patients with dystrophic epidermolysis bullosa reveals novel and recurrent mutations

  JEŘÁBKOVÁ Barbora KOPEČKOVÁ Lenka BUČKOVÁ Hana VESELÝ Karel VALÍČKOVÁ Jana FAJKUSOVÁ Lenka

  Article in Periodical

  JOURNAL OF DERMATOLOGICAL SCIENCE, year: 2010, volume: 59, edition: 2

• Analysis of the COL7A1 gene in Czech patients with dystrophic epidermolysis bullosa, novel and recurrent mutations.

  FAJKUSOVÁ Lenka KOPEČKOVÁ Lenka JEŘÁBKOVÁ Barbora BUČKOVÁ Hana

  Conference abstract

  Year: 2010, type: Conference abstract

• Analýza sekvenčních změn v LDLR genu: od mutací k rozsáhlým přestavbám a zpět

  TICHÝ Lukáš DUŠKOVÁ Lucie ZAPLETALOVÁ Petra KOPEČKOVÁ Lenka LETOCHA Ondřej FAJKUSOVÁ Lenka

  Conference abstract

  Year: 2010, type: Conference abstract

• DNA diagnostika onemocnění epidermolysis bullosa v České republice.

  KOPEČKOVÁ Lenka JEŘÁBKOVÁ Barbora BUČKOVÁ Hana VALÍČKOVÁ Jana VESELÝ Karel FAJKUSOVÁ Lenka

  Conference abstract

  Year: 2010, type: Conference abstract