Publikace
- Comparison of different IRT-PAP protocols to screen newborns for cystic fibrosis in three central European populations2014 | 2. lékařská fakulta, 3. lékařská fakulta
- Prospective and parallel assessments of cystic fibrosis newborn screening protocols in the Czech Republic: IRT/DNA/IRT versus IRT/PAP and IRT/PAP/DNA2012 | 2. lékařská fakulta, 3. lékařská fakulta, Ústřední knihovna
- Analytical parameters and validation of homopolymer detection in a pyrosequencing-based next generation sequencing system2018 | 2. lékařská fakulta
- Under the mask of Kabuki syndrome: Elucidation of genetic-and phenotypic heterogeneity in patients with Kabuki-like phenotype2018 | 2. lékařská fakulta
- Cost-of-illness analysis and regression modeling in cystic fibrosis: a retrospective prevalence-based study2017 | 2. lékařská fakulta, Farmaceutická fakulta v Hradci Králové
- A product of immunoreactive trypsinogen and pancreatitis-associated protein as second-tier strategy in cystic fibrosis newborn screening2016 | 2. lékařská fakulta, 3. lékařská fakulta
- Výsledky rozšířeného novorozeneckého screeningu v České republice2014 | 1. lékařská fakulta, 2. lékařská fakulta, 3. lékařská fakulta
- Complex morphological and molecular genetic examination of amelogenesis imperfecta: A case presentation of two Czech siblings with a non-syndrome form of the disease2014 | 2. lékařská fakulta
- 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 populations2013 | 1. lékařská fakulta, Fakulta tělesné výchovy a sportu, 2. lékařská fakulta
- Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity2013 | 2. lékařská fakulta
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