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CAN genes
Person
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Person
Publication
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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
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
X-linked hyper-IgM syndrome (CD40 ligand deficiency). Patients in the Czech Republic and literature review
2012 |
Second Faculty of Medicine
publication
Clinical Phenotype and Genotype of Children with Borderline Sweat Test and Abnormal Nasal Epithelial Chloride Transport
2010 |
Second Faculty of Medicine
publication
Pilot newborn screening project for cystic fibrosis in the Czech Republic: Defining role of the delay in its symptomatic diagnosis and influence of ultrasound-based prenatal diagnosis on the incidence of the disease
2009 |
Second Faculty of Medicine, Third Faculty of Medicine
publication
A European consensus for the evaluation and management of infants with an equivocal diagnosis following newborn screening for cystic fibrosis
2009 |
Second Faculty of Medicine, Third 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
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