- Twist exome capture allows for lower average sequence coverage in clinical exome sequencingPublikace bez příslušnosti k fakultě
- Lessons from whole-exome sequencing in MODYX families2014 | 2. lékařská fakulta
- Sekvenování nové generace2013 | 2. lékařská fakulta
- NFKB2 Mutation Diagnosed by Whole Exome Sequencing (WES) in a Patient with Complex Phenotype and Hypogammaglobulinemia2019 | 2. lékařská fakulta
- Molecular diversity of combined and complex dystonia: insights from diagnostic exome sequencing2017 | 1. lékařská fakulta
- Genetic overlap between dystonia and other neurologic disorders: A study of 1,100 exomes2022 | 1. lékařská fakulta
- Whole Exome Sequencing of Epithelial Ovarian Carcinomas Differing in Resistance to Platinum Therapy2022 | 1. lékařská fakulta, 2. lékařská fakulta, Lékařská fakulta v Plzni, 3. 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
- Exome sequencing for identification of disease genes for rare syndromes. Experiences from Hamburg2014 | 2. lékařská fakulta
- Exome sequencing improves the molecular diagnostics of paediatric unexplained neurodevelopmental disorders2024 | 2. lékařská fakulta
- Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness2020 | 2. lékařská fakulta
- Prognostic potential of whole exome sequencing in the clinical management of metachronous colorectal cancer liver metastases2023 | Lékařská fakulta v Plzni
- Predictors of whole exome sequencing in dystonic cerebral palsy and cerebral palsy-like disorders2023 | 1. lékařská fakulta
- A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing2023 | 2. lékařská fakulta
- A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencingPublikace bez příslušnosti k fakultě
- The potential of exome sequencing of paired colorectal tumors and synchronous liver metastases to improve treatment2023 | Lékařská fakulta v Plzni
- Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease2023 | 1. lékařská fakulta, 2. lékařská fakulta, 3. lékařská fakulta, Ústřední knihovna
- Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel2024 | 2. lékařská fakulta
- Whole exome sequencing identifies novel germline variants of SLC15A4 gene as potentially cancer predisposing in familial colorectal cancer2022 | Lékařská fakulta v Plzni
- Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant2022 | 2. lékařská fakulta
- Whole Exome Sequencing Identifies APCDD1 and HDAC5 Genes as Potentially Cancer Predisposing in Familial Colorectal Cancer2021 | Lékařská fakulta v Plzni
- Po stopách genetických příčin chronického onemocnění ledvin2021 | 1. lékařská fakulta
- Diagnostic Utility of Exome Sequencing for Kidney Disease2019 | 1. lékařská fakulta
- A unique case of Bloom syndrome with a combination of genetic hits: A lesson from trio-based exome sequencing: A case report2023 | 2. lékařská fakulta
- Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing2012 | 1. lékařská fakulta
- Whole-Exome Sequencing in Czech Patients with Neurogenetic Diseases2020 | 2. lékařská fakulta
- Monogenic variants in dystonia: an exome-wide sequencing study2020 | 1. lékařská fakulta
- Whole Exome Sequencing Analysis of ABCC8 and ABCD2 Genes Associating With Clinical Course of Breast Carcinoma2015 | 1. lékařská fakulta, Lékařská fakulta v Plzni
- Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals2019 | 2. lékařská fakulta