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cystic fibrosis transmembrane conductance regulator
Person
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Person
Publication
Programmes
RNDr. Alexandra Štambergová CSc.
External person at Second Faculty of Medicine
9 publications
Publications
publication
Laboratory reporting on the clinical spectrum of CFTR p.Arg117His: Still room for improvement
2020 |
Second Faculty of Medicine
publication
Prospective and parallel assessments of cystic fibrosis newborn screening protocols in the Czech Republic: IRT/DNA/IRT versus IRT/PAP and IRT/PAP/DNA
2012 |
Second Faculty of Medicine, Third Faculty of Medicine, Central Library of Charles University
publication
Evaluation of High-Resolution Melting (HRM) for Mutation Scanning of Selected Exons of the CFTR Gene
2009 |
Second Faculty of Medicine
publication
Distribution of CFTR mutations in the Czech population: Positive impact of integrated clinical and laboratory expertise, detection of novel/de novo alleles and relevance for related/derived populations
2013 |
First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
publication
A common haplotype of protamine 1 and 2 genes is associated with higher sperm counts
2010 |
Second Faculty of Medicine
publication
Diagnostic method validation: High resolution melting (HRM) of small amplicons genotyping for the most common variants in the MTHFR gene
2009 |
Second Faculty of Medicine
publication
Diagnostic Guidelines for High-Resolution Melting Curve (HRM) Analysis: An Interlaboratory Validation of BRCA1 Mutation Scanning Using the 96-Well LightScanner (TM)
2009 |
Second Faculty of Medicine
publication
Current Diagnostic Strategies and Overview of Preimplantation, Prenatal and Postnatal DNA Diagnostics of Cystic Fibrosis in the Czech Republic
2008 |
Second Faculty of Medicine, Third Faculty of Medicine
publication
EuroGentest: an EU-funded Project for Harmonisation and Improvement of the Quality of Genetic Services
2007 |
First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
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