- Mutation screening of hypocretin system genes in human narcoleptics2000 | 1. lékařská fakulta
- Mutation screening of APC gene in Czech FAP patiensPublikace bez příslušnosti k fakultě
- Záchyt somatických mutací vybraných polymeráz u pacientů s kolorektálním karcinomemPublikace bez příslušnosti k fakultě
- Molecular pathology of copper methabolism: Mutation screening in the ATP7A gene in Czech patients with Menkes disease-identification of two novel mutationsPublikace bez příslušnosti k fakultě
- Mutation Screening for patients with Gitelman Syndrom in the Czech Republic. 2 novel mutations foundPublikace bez příslušnosti k fakultě
- Mutation screening of BRCA1, BRCA2 and CHEK*1100delC in slovak HBOC familiesPublikace bez příslušnosti k fakultě
- Mutation screening in the ATP7A gene in czech patients with Menkes disease: identification of a novel mutationPublikace bez příslušnosti k fakultě
- DNA Analysis of Renal Electrolyte Transporter Genes Among Patients Suffering from Bartter and Gitelman Syndromes - Summary of Mutation Screening2011 | 1. lékařská fakulta
- Establishing high resolution melting analysis: method validation and evaluation for c-RET proto-oncogene mutation screening2011 | Ústřední knihovna
- Mutation Screening in the ATP7A and ATP7B Genes in Czech patients with Menkes Disease and Wilson DiseasePublikace bez příslušnosti k fakultě
- Mutation screening in newly (2004) diagnozed patiens with acute intermittent porphyria from Czech and Slovak RepublicsPublikace bez příslušnosti k fakultě
- Mutational screening of inverted formin 2 in adult-onset focal segmental glomerulosclerosis or minimal change patients from the Czech Republic2018 | 1. lékařská fakulta
- Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB92012 | 1. lékařská fakulta
- Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms2007 | 2. lékařská fakulta
- Cystathionine beta-synthase deficiency in Central Europe: Discrepancy between biochemical and molecular genetic screening for homocystinuric alleles2001 | 1. lékařská fakulta
- Two new mutations in the CEL gene causing diabetes and hereditary pancreatitis: How to correctly identify MODY8 cases2022 | 2. lékařská fakulta
- Cystic fibrosis: A worldwide analysis of CFTR mutations - Correlation with incidence data and application to screening2002 | 2. lékařská fakulta
- New screening method for identification of the leukemia-inhibitory factor gene mutations using the temperature gradient gel electrophoresis (TGGE)Publikace bez příslušnosti k fakultě
- Analysis of FOXL2 detects three novel mutations and an atypical phenotype of blepharophimosis-ptosis-epicanthus inversus syndrome2016 | 1. lékařská fakulta, 2. lékařská fakulta, Fakulta tělesné výchovy a sportu
- Somatic thrombopoietin (THPO) gene mutations in childhood myeloid leukemias2015 | 2. lékařská fakulta
- The variable biological signature of refractory cytopenia of childhood (RCC), a retrospective EWOG-MDS study2021 | 2. lékařská fakulta
- Analysis of SYNJI, a candidate gene for 21q22 linked bipolar disorder. A replication study2004 | 1. lékařská fakulta
- Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders - updated European recommendations2009 | 2. lékařská fakulta
- Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD)2005 | 2. lékařská fakulta
- Účinek nové intronické FBN1 mutace na sestřih odhalený metodou splicing minigene assayPublikace bez příslušnosti k fakultě
- Germ-line GATA2 p.THR354MET mutation in familial myelodysplastic syndrome with acquired monosomy 7 and ASXL1 mutation demonstrating rapid onset and poor survival2012 | 2. lékařská fakulta
- Mutations in the LMNA gene do not cause axonal CMT in Czech patients2009 | 2. lékařská fakulta
- Highly preferential association of NonF508del CF mutations with the M470 allele2007 | 2. lékařská fakulta
- Desaturase specificity is controlled by the physicochemical properties of a single amino acid residue in the substrate binding tunnel2020 | Ústřední knihovna
- De novo mutations in HCN1 cause early infantile epileptic encephalopathy2014 | 2. lékařská fakulta