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CFTR mutations
Person
Class
Person
Publication
Programmes
MUDr. Alice Krebsová Ph.D.
Academic staff at Central Library of Charles University
77 publications
Publications
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
Preimplantation Prenatal Diagnosis within the Framework of Reproductive Medicine and Rep-roductive Genetics
1999 |
First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
publication
Increased frequency of deltaF508 mutation carriers in men with non-obstructive azoospermia
1999 |
Second Faculty of Medicine
publication
Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13
1999 |
Second Faculty of Medicine
publication
Sensitivity of the denaturing gradient gel electrophoresis technique in detection of known mutations and novel Asian mutations in CFTR gene
1997 |
Second Faculty of Medicine
publication
Post-mortem genetic testing in sudden cardiac death and genetic screening of relatives at risk: lessons learned from a Czech pilot multidisciplinary study
2023 |
First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine, Third Faculty of Medicine, Central Library of Charles University, Faculty of Medicine in Hradec Králové, Faculty of Medicine in Pilsen
publication
Postmortem genetic testing in sudden cardiac death victims and genetic screening of relatives at risk in the Czech Republic
2023 |
First Faculty of Medicine, Second Faculty of Medicine, Third Faculty of Medicine, Central Library of Charles University, Faculty of Medicine in Hradec Králové
publication
PRKAG2 syndrome as a highly arrhythmogenic eventuality in the differential diagnosis of hypertrophic cardiomyopathy - an example of two families with a confirmed causative DNA variant
2023 |
Second Faculty of Medicine, Central Library of Charles University
publication
Ablation for long QT syndrome: local or global repolarization effects?
2023 |
Central Library of Charles University
publication
Outcomes of personalised external aortic root support implantation in 100 patients in the Czech Republic
2022 |
First Faculty of Medicine, Second Faculty of Medicine, Central Library of Charles University, Faculty of Medicine in Hradec Králové
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