doc. RNDr. Lenka Fajkusová, CSc.
Associate professor, National Centre for Biomolecular Research
Correspondence Address:
Kotlářská 267/2, 611 37 Brno
Phone: | +420 532 23 4625 |
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E‑mail: |
social and academic networks: |
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Total number of publications: 277
2008
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Mutation Analysis of Dystrophic Epidermolysis Bullosa in the Czech Republic
Year: 2008, type: Conference abstract
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Mutation Analysis of Epidermolysis Bullosa in the Czech Republic
Year: 2008, type: Conference abstract
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První případ prenatální diagnostiky v rodině s Epidermolysis bullosa simplex- Dowling-Meara
Česko - Slovenská Pediatrie, year: 2008, volume: 63, edition: 7.-8.
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Quantitative analysis of CAPN3 and DMD transcripts: Involvement of nonsense-mediated mRNA decay
Year: 2008, type: Conference abstract
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RNA fluorescence in situ hybriddization analysis of fetal tissues from a family affected by myotonic dystrophy.
Year: 2008, type: Conference abstract
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Spina musular atrophy in University Hospital Brno, Czech Republic - Genetic counseling DNA analysis, Prenatal Analysis
European Journal of Human Genetics, year: 2008, volume: 19, edition: Suppl. 2
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Spinal muscular atrophy in University Hospital Brno, Czech Republik - Genetic counselling, DNA analysis, Prenatal analysis
European Journal of Human Genetics, year: 2008, volume: 16, edition: 2
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Zavedení Wilsonova čipu do molekulární diagnostiky Wilsonovy choroby
Year: 2008, type: Conference abstract
2007
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Advance in molecular diagnosis of familial hypercholesterolemia in the Czech population: identification and characterization of large rearrangements in LDLR gene
Vnitřní lékařství, year: 2007
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An unusual case of congenital muscular dystrophy with normal serum CK level, external ophtalmoplegia, and white matter changes on brain MRI.
Eur J Paediatr Neuro, year: 2007, volume: 11, edition: 6