- 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
- Direct 16S/18S rRNA Gene PCR Followed by Sanger Sequencing as a Clinical Diagnostic Tool for Detection of Bacterial and Fungal Infections: a Systematic Review and Meta-Analysis2023 | 2. lékařská fakulta
- Genetic diagnosis of steroid-resistant nephrotic syndrome in a longitudinal collection of Czech and Slovak patients: a high proportion of causative variants in NUP932018 | 2. lékařská fakulta
- The curious case of Cladonia luteoalba: No support for its distinction2022 | Přírodovědecká fakulta
- Lack of PRKD2 and PRKD3 kinase domain somatic mutations in PRKD1 wild-type classic polymorphous low-grade adenocarcinomas of the salivary gland2016 | Lékařská fakulta v Plzni
- Low frequency of DNMT3A mutations in pediatric AML, and the identification of the OCI-AML3 cell line as an in vitro model2012 | 2. lékařská fakulta
- Rapid classification of unknown biological material using a novel triplex assay2017 | 2. lékařská fakulta
- Comparative study of TERT gene mutation analysis on voided liquid-based urine cytology and paraffin-embedded tumorous tissue2016 | Lékařská fakulta v Plzni, Ústřední knihovna
- Efektivní schéma využívané v diagnostice nádorů CNS2022 | 2. lékařská fakulta
- Comparison of molecular diagnostic approaches for the detection and differentiation of the intestinal protist Blastocystis sp. in humans2022 | 2. lékařská fakulta
- Evaluation of two approaches to genotyping major histocompatibility complex class I in a passerine-CE-SSCP and 454 pyrosequencing2012 | Přírodovědecká fakulta
- An effective combination of sanger and next generation sequencing in diagnostics of primary ciliary dyskinesia2016 | 2. lékařská fakulta
- HK1 haemolytic anaemia in association with a neurological phenotype and co-existing CEP290 Meckel-Gruber in a Romani family2022 | Ústřední knihovna
- Disease-Causing Variants in the ATL1 Gene Are a Rare Cause of Hereditary Spastic Paraplegia among Czech Patients2017 | 2. lékařská fakulta
- Kongenitální fibróza zevních okohybných svalů u české rodiny a její molekulárně genetická příčina2019 | 2. lékařská fakulta, 1. lékařská fakulta
- Exploring the environmental diversity of kinetoplastid flagellates in the high-throughput DNA sequencing era2015 | Přírodovědecká fakulta
- The Quantification of Representative Sequences pipeline for amplicon sequencing: case study on within-population ITS1 sequence variation in a microparasite infecting Daphnia2015 | Přírodovědecká fakulta
- Schinzel-Giedion Syndrome: First Czech Patients Confirmed by Molecular Genetic Analysis2019 | 2. lékařská fakulta
- Standardized next-generation sequencing of immunoglobulin and T-cell receptor gene recombinations for MRD marker identification in acute lymphoblastic leukaemia; a EuroClonality-NGS validation study2019 | 2. lékařská fakulta
- Identification of two compound heterozygous VPS13A large deletions in chorea-acanthocytosis only by protein and quantitative DNA analysis2020 | 1. lékařská fakulta
- Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing2020 | 1. lékařská fakulta
- Potential and pitfalls of whole transcriptome-based immunogenetic marker identification in acute lymphoblastic leukemia; a EuroMRD and EuroClonality-NGS Working Group study2021 | 2. lékařská fakulta
- SPAST mutation spectrum and familial occurrence among Czech patients with pure hereditary spastic paraplegia2016 | 2. lékařská fakulta
- Targeted long-read sequencing identified a causal structural variant in X-linked nephrogenic diabetes insipidus2023 | Lékařská fakulta v Plzni, 3. lékařská fakulta
- Targeted long-read sequencing identified a causal structural variant in X-linked nephrogenic diabetes insipidus2024 | Lékařská fakulta v Plzni
- Genetická etiologie onemocnění ledvin - přehled a kazuistiky ve světle masivního paralelního sekvenování2021 | 2. lékařská fakulta
- PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature2018 | 2. lékařská fakulta
- Absence of BRAF mutation in pheochromocytoma and paraganglioma2017 | 2. lékařská fakulta, Ústřední knihovna, 1. lékařská fakulta
- Untangling the hidden intrathalline microalgal diversity in Parmotrema pseudotinctorum: Trebouxia crespoana sp. nov.2018 | Přírodovědecká fakulta
- Severe neurodevelopmental disorder with intractable seizures due to a novel SLC1A4 homozygous variant2021 | 2. lékařská fakulta