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fenylketonurie
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MUDr. Tereza Piskáčková
External person at Second Faculty of Medicine
14 publications
Publications
publication
Results of expanded newborn screening in the Czech Republic
2014 |
First Faculty of Medicine, Second Faculty of Medicine, Third 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
Association Screening in the Epidermal Differentiation Complex (EDC) Identifies an SPRR3 Repeat Number Variant as a Risk Factor for Eczema
2011 |
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
Modifier gene study of meconium ileus in cystic fibrosis: statistical considerations and gene mapping results
2009 |
Second Faculty of Medicine
publication
A common variant on chromosome 11q13 is associated with atopic dermatitis
2009 |
Second Faculty of Medicine
publication
Genetic Structure of Europeans: A View from the North-East
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
Detection of two Alu insertions in the CFTR gene
2008 |
Second Faculty of Medicine
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