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
2018
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Autosomal dominant hypercholesterolaemia
Year: 2018, type: Conference abstract
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Dravetovej syndróm s mutáciou v SCN1A géne - klinické skúsenosti Kliniky detskej neurologie FN Brno
Year: 2018, type: Conference abstract
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Funkční důsledky mutace v genu CLCN1 asociované s kongenitální myotonií
Year: 2018, type: Conference abstract
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Smith-Lemli-Opitz syndrom, dva případy našich pacientů
Year: 2018, type: Conference abstract
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Smithův-Lemliův-Opitzův syndrom
Pediatria, year: 2018, volume: 13, edition: 2
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Syndróm Dravetovej s mutáciou v SCN1A géne, genetické aspekty a klinické skúsenosti
Česká a slovenská neurologie a neurochirurgie, year: 2018, volume: 81, edition: 1, DOI
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Three novel mutations in the JAG1 gene in Czech families with the Alagille syndrome
Year: 2018, type: Conference abstract
2017
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Alagillův syndrom
Year: 2017, type: Conference abstract
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DNA mutation motifs in the genes associated with inherited diseases
Plos one, year: 2017, volume: 12, edition: 8, DOI
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Familial Hypercholesterolemia in the Czech Republic: More Than 17 Years of Systematic Screening Within the MedPed Project
Physiological research, year: 2017, volume: 66, edition: Suppl. 1