- Improving diagnosis of inherited peripheral neuropathies through gene panel analysis2016 | 2. lékařská fakulta
- Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel2024 | 2. lékařská fakulta
- Genetic Etiologies for Chronic Kidney Disease Revealed through Next-Generation Renal Gene Panel2022 | 1. lékařská fakulta
- Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes2017 | 2. lékařská fakulta
- Spectrum and frequencies of non GJB2 gene mutations in Czech patients with early non-syndromic hearing loss detected by gene panel NGS and whole-exome sequencing2020 | 2. lékařská fakulta, 1. lékařská fakulta
- Detection rate of causal variants in severe childhood epilepsy is highest in patients with seizure onset within the first four weeks of life2018 | 2. lékařská fakulta
- GATOR1-related focal cortical dysplasia in epilepsy surgery patients and their families: A possible gradient in severity?2021 | 2. lékařská fakulta
- Přínos masivního paralelního sekvenování pro diagnostiku dědičných forem nádorů ovaria v České republice2019 | 1. lékařská fakulta
- Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor2017 | 2. lékařská fakulta, Ústřední knihovna
- Clinical features and blood iron metabolism markers in children with beta-propeller protein associated neurodegeneration2020 | 2. lékařská fakulta, 1. lékařská fakulta
- COX6A1 mutation causes axonal hereditary motor and sensory neuropathy - the confirmation of the primary report2016 | 2. lékařská fakulta
- Severe neurodevelopmental disorder with intractable seizures due to a novel SLC1A4 homozygous variant2021 | 2. lékařská fakulta
- Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia2017 | 2. lékařská fakulta
- Autosomal recessive hereditary spastic paraplegia type SPG35 due to a novel variant in the FA2H gene in a Czech patient2019 | 2. lékařská fakulta
- COL4A1 mutation-related disorder presenting as fetal intracranial bleeding, hydrocephalus, and polymicrogyria2023 | 2. lékařská fakulta, 1. lékařská fakulta
- Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes2018 | 1. lékařská fakulta
- Altered Expression of MBNL Family of Alternative Splicing Factors in Colorectal Cancer2021 | 1. lékařská fakulta, Lékařská fakulta v Plzni
- Genetic Testing for Malformations of Cortical Development2022 | 2. lékařská fakulta
- LOGGIC Core BioClinical Data Bank: Added clinical value of RNA-Seq in an international molecular diagnostic registry for pediatric low-grade glioma patients2023 | 2. lékařská fakulta
- Germline and somatic genetic profiles of epithelial ovarian carcinoma patients sensitive and resistant to platinum derivatives estimated by targeted DNA sequencingPublikace bez příslušnosti k fakultě
- Massively Parallel Sequencing Detected a Mutation in the MFN2 Gene Missed by Sanger Sequencing Due to a Primer Mismatch on an SNP Site2016 | 2. lékařská fakulta
- Confirmation of the GNB4 gene as causal for Charcot-Marie-Tooth disease by a novel de novo mutation in a Czech patient2017 | 2. lékařská fakulta
- Novel LOX Variants in Five Families with Aortic/Arterial Aneurysm and Dissection with Variable Connective Tissue Findings2021 | 2. lékařská fakulta, Úst řední knihovna
- Recommendations for whole genome sequencing in diagnostics for rare diseases2022 | 2. lékařská fakulta
- Neonatal Onset of Epilepsy of Infancy with Migrating Focal Seizures Associated with a Novel GABRB3 Variant in Monozygotic Twins2018 | 2. lékařská fakulta
- Whole Exome Sequencing of Aberrant Plasma Cells in a Patient with Multiple Myeloma Minimal Residual Disease2017 | Publikace bez příslušnosti k fakultě
- Diagnostic exome sequencing in early-onset Parkinson's disease confirms VPS13C as a rare cause of autosomal-recessive Parkinson's disease2018 | 1. lékařská fakulta
- Novel Familial IQSEC2 Pathogenic Sequence Variant Associated With Neurodevelopmental Disorders and Epilepsy2020 | 2. lékařská fakulta
- New methodology of TMB assessment from tissue and liquid biopsy in NSCLC2022 | 1. lékařská fakulta
- Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian Cancer2016 | 1. lékařská fakulta