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: 280
2008
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Změna v promotorové oblasti s bodovou mutací p.P30L ovlivňuje fenotyp nemoci u deficitu 21-hydroxylázy - kazuistika
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
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Analysis of point mutations in the SMN1 gene in Czech SMA patients
Neuromuscular Disorders, year: 2007
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Analysis of point mutations in the SMN1 gene in SMA patients bearing a single SMN1 copy
Neuromuscular Disorders, year: 2007, volume: 17, edition: 6
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APEX-nový přístup v molekulárně genetické diagnostice Wilsonovy choroby
Year: 2007, type: Appeared in Conference without Proceedings
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FISH analýza tkání fetu postiženého kongenitální myotonickou dystrofií.
Year: 2007, type: Conference abstract
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Charcot-Marie-Tooth neuropathy type 1A combined with Duchenne muscular dystrophy
European Journal of Neurology, year: 2007, volume: 14/2007, edition: 14
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Molekulární diagnostika pletencové svalové dystrofie typu 2A.
Sborník abstrakt XVIII. Neuromuskulárního sympózia., year: 2007
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Mutation Analysis of Epidermolysis Bullosa Simplex in the Czech republic
1st World Congress on Genodermatology, year: 2007