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small insertions
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publication
Very short DNA segments can be detected and handled by the repair machinery during germline chromothriptic chromosome reassembly
2018 |
Second Faculty of Medicine, First Faculty of Medicine
publication
Clinically relevant copy-number variants in exome sequencing data of patients with dystonia
2021 |
First Faculty of Medicine
publication
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
2023 |
Second Faculty of Medicine
publication
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
Publication without faculty affiliation
publication
Targeted long-read sequencing identified a causal structural variant in X-linked nephrogenic diabetes insipidus
2023 |
Faculty of Medicine in Pilsen, Third Faculty of Medicine
publication
Targeted long-read sequencing identified a causal structural variant in X-linked nephrogenic diabetes insipidus
2024 |
Faculty of Medicine in Pilsen
publication
Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families
2008 |
Second Faculty of Medicine