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MUTATIONS
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MUDr. Veronika Skalická
Academic staff at Second Faculty of Medicine
60 publications
Publications
publication
Cystic fibrosis related diabetes: epidemiology, pathophysiology, diagnosis and treatment
2015 |
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
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
Clinical Phenotype and Genotype of Children with Borderline Sweat Test and Abnormal Nasal Epithelial Chloride Transport
2010 |
Second Faculty of Medicine
publication
Mutations in the Amiloride-Sensitive Epithelial Sodium Channel in Patients With Cystic Fibrosis-Like Disease
2009 |
Second Faculty of Medicine
publication
Phenotypic characterisation of patients with intermediate sweat chloride values: towards validation of the European diagnostic algorithm for cystic fibrosis
2009 |
Publication without faculty affiliation
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
The Newborn Screening for Cystic Fibrosis in the Czech Republic: Results of Pilot Study
2007 |
Second Faculty of Medicine, Third Faculty of Medicine
publication
Newborn Screening for Cystic Fibrosis in the Czech Republic: Results of a Pilot Study
2007 |
Second Faculty of Medicine
publication
Proper Interpretation of Elastase-1 Concentration in Stool: Experience of the Prague CF Centre
2002 |
Second Faculty of Medicine
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