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klinická cytogenetika
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Person
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Jana Čamajová
Person without affiliation with CUNI
6 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
A standardized framework for the validation and verification of clinical molecular genetic tests
2010 |
First Faculty of Medicine, Faculty of Physical Education and Sport, 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
Variability in the use of CE-marked assays for in vitro diagnostics of CFTR gene mutations in European genetic testing laboratories
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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