- Noncoding RNA expression and targeted next-generation sequencing distinguish tubulocystic renal cell carcinoma (TC-RCC) from other renal neoplasms2018 | Lékařská fakulta v Plzni
- Profiles of somatic mutations in tissue of IBD and IBD-associated carcinomas revealed by a targeted next-generation sequencing (NGS) tumour panel confirm notable differences from sporadic colorectal carcinomasPublikace bez příslušnosti k fakultě
- Results of targeted next-generation sequencing in children with cystic kidney diseases often change the clinical diagnosis2020 | 1. lékařská fakulta, 2. lékařská fakulta
- Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic2017 | Ústřední knihovna, 1. lékařská fakulta, 2. lékařská fakulta
- Targeted next-generation sequencing and non-coding RNA expression analysis fo clear cell papillary renal cell carcinoma suggests distinct pathological mechanisms from other renal tumour subtypes2014 | Lékařská fakulta v Plzni
- Targeted next generation sequencing of MLH1-deficient, MLH1 promoter hypermethylated, and BRAF/RAS-wild-type colorectal adenocarcinomas is effective in detecting tumors with actionable oncogenic gene fusions2020 | Lékařská fakulta v Plzni, 2. lékařská fakulta
- Search for a time- and cost-saving genetic testing strategy for maturity-onset diabetes of the young2022 | 2. lékařská fakulta, Matematicko-fyzikální fakulta
- SMPD1 variants do not have a major role in rapid eye movement sleep behavior disorder2020 | 1. lékařská fakulta
- Gene-based evidence for burden of rare pathogenic variants in pharmacogenes and oncogens of Czech breast cancer patients2019 | Lékařská fakulta v Plzni, 1. lékařská fakulta
- Clear cell mesotheliomas with inactivating VHL mutations and near-haploid genomic features +12023 | Lékařská fakulta v Plzni
- STAT3 and TP53 mutations associate with poor prognosis in anaplastic large cell lymphoma2021 | Lékařská fakulta v Hradci Králové
- Renal Cell Carcinoma With Leiomyomatous Stroma: A Group of Tumors With Indistinguishable Histopathologic Features, But 2 Distinct Genetic Profiles: Next-Generation Sequencing Analysis of 6 Cases Negative for Aberrations Related to the VHL gene2018 | Lékařská fakulta v Plzni
- MODY in Ukraine: genes, clinical phenotypes and treatment2017 | 2. lékařská fakulta
- Novel Familial IQSEC2 Pathogenic Sequence Variant Associated With Neurodevelopmental Disorders and Epilepsy2020 | 2. lékařská fakulta
- Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes2018 | 1. lékařská fakulta
- Genetic analysis of subsequent second primary malignant neoplasms in long-term pancreatic cancer survivors suggests new potential hereditary genetic alterations2019 | Lékařská fakulta v Plzni, 1. lékařská fakulta
- IPSC-Derived Corneal Endothelial-like Cells Act as an Appropriate Model System to Assess the Impact of SLC4A11 Variants on Pre-mRNA Splicing2019 | 1. lékařská fakulta
- Identification of tumors with NRG1 rearrangement, including a novel putative pathogenic UNC5D-NRG1 gene fusion in prostate cancer by data-drilling a de-identified tumor database2021 | Lékařská fakulta v Plzni, 2. lékařská fakulta
- Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations2017 | 2. lékařská fakulta
- RET, NTRK, ALK, BRAF, and MET Fusions in a Large Cohort of Pediatric Papillary Thyroid Carcinomas2020 | 2. lékařská fakulta, 3. lékařská fakulta
- Molecular Genetic Features of Primary Nonurachal Enteric-type Adenocarcinoma, Urachal Adenocarcinoma, Mucinous Adenocarcinoma, and Intestinal Metaplasia/Adenoma: Review of the Literature and Next-generation Sequencing Study2020 | Lékařská fakulta v Plzni