Classes
Publications
- Growth disorders due to rearrangement of SHOX gene locus2019 | Faculty of Medicine in Pilsen
- Molecular Genetic Testing of Diabetes Insipidus Renalis2019 | Faculty of Medicine in Pilsen
- Léri-Weill Syndrome on the Principle of Structural Aberration of Chromosome Y (Case Report)2018 | Faculty of Medicine in Pilsen
- First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic diabetes mellitus: a novel mutation in the thiamine transporter SLC19A2 gene-intron 1 mutation c.204+2T>G2017 | Faculty of Medicine in Pilsen
- Role of cytogenetic analysis in current management of childhood acute lymphoblastic leukemia treatment2015 | Faculty of Medicine in Pilsen
- Options and consequences of genetic testing in patients with high risk of breast and ovarian cancer due to BRCA1 and BRCA2 mutations2015 | Faculty of Medicine in Pilsen
- Surprising diagnosis of a rare endocrine disease when examining a child for short stature2014 | Faculty of Medicine in Pilsen
- Cytokine tumor necrosis factor-alpha A promoter gene polymorphism at position - 308 G—A and pediatric inflammatory bowel disease: implications in ulcerative colitis and Crohn’s disease2006 | Faculty of Medicine in Pilsen
- Targeted long-read sequencing identified a causal structural variant in X-linked nephrogenic diabetes insipidus2024 | Faculty of Medicine in Pilsen
- A recurrent synonymous L1CAM variant in a fetus with hydrocephalus2024 | Faculty of Medicine in Pilsen
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