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: |
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Publications
Total number of publications: 279
2014
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Patogeneze poruch permeability kožní bariéry u nesyndromatických vrozených ichtyóz: vrozené defekty lipidového metabolismu
Year: 2014, type: Conference abstract
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Protein folding disease: Familiar Hypercholesterolemia
Year: 2014, type: Conference abstract
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Současné možnosti genetické diagnostiky neuromuskulárních nemocí v CMBGT FN Brno.
Year: 2014, type: Conference abstract
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The extension of molecular genetic diagnostics of congenital adrenal hyperplasia in the Czech Republic
Year: 2014, type: Conference abstract
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Variant within the apolipoprotein B and its role in pseudo-FH development
Year: 2014, type: Conference abstract
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Využití sequence capture v DNA diagnostice neuromuskulárních onemocnění
Year: 2014, type: Conference abstract
2013
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Atypický priebeh Smithovho-Lemliho-Opitzovho syndrómu s genotypom W326L/S397L
Year: 2013, type: Conference abstract
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Cardio-Ankle Vascular Index in Subjects with Dyslipidaemia and Other Cardiovascular Risk Factors
JOURNAL OF ATHEROSCLEROSIS AND THROMBOSIS, year: 2013, volume: 20, edition: 5, DOI
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CLCN1 Mutations in Czech Patients with Myotonia Congenita, In Silico Analysis of Novel and Known Mutations in the Human Dimeric Skeletal Muscle Chloride Channel
PLOS ONE, year: 2013, volume: 8, edition: 12, DOI
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Diagnostika neuromuskulárních chorob pomocí Sequence Capture - Targeted resequencing
Year: 2013, type: