Publikace
- Schimke immunoosseous dysplasia: an ultra-rare disease. a 20-year case series from the tertiary hospital in the Czech Republic2023 | 2. lékařská fakulta
- Father and son with a pathogenic variant c.614dup p.(Gln206Thrfs*20) in the NR5A1 gene2023 | 2. lékařská fakulta
- Genetic Testing for Malformations of Cortical Development2022 | 2. lékařská fakulta
- Bicuspid aortic valve: a pilot candidate gene-based approach in a representative Czech cohor2020 | 2. lékařská fakulta
- Targeted massively parallel sequencing of a representative cohort of Czech patients with various rare aortopathies demonstrates the clinical utility of genetic testing and the need for a multidisciplinary approach to at risk families2018 | 2. lékařská fakulta
- A product of immunoreactive trypsinogen and pancreatitis-associated protein as second-tier strategy in cystic fibrosis newborn screening2016 | 2. lékařská fakulta, 3. lékařská fakulta
- Comparison of different IRT-PAP protocols to screen newborns for cystic fibrosis in three central European populations2014 | 2. lékařská fakulta, 3. 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
- A European consensus for the evaluation and management of infants with an equivocal diagnosis following newborn screening for cystic fibrosis2009 | 2. lékařská fakulta, 3. lékařská fakulta
- Komplexní cytogenetická a molekulárně genetická diagnostika vrozených vývojových vad srdcePublikace bez příslušnosti k fakultě
Loading network view...