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publication
Very short DNA segments can be detected and handled by the repair machinery during germline chromothriptic chromosome reassembly
2018 |
2. lékařská fakulta, 1. lékařská fakulta
publication
Clinically relevant copy-number variants in exome sequencing data of patients with dystonia
2021 |
1. lékařská fakulta
publication
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
2023 |
2. lékařská fakulta
publication
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
Publikace bez příslušnosti k fakultě
publication
Targeted long-read sequencing identified a causal structural variant in X-linked nephrogenic diabetes insipidus
2023 |
Lékařská fakulta v Plzni, 3. lékařská fakulta
publication
Targeted long-read sequencing identified a causal structural variant in X-linked nephrogenic diabetes insipidus
2024 |
Lékařská fakulta v Plzni
publication
Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families
2008 |
2. lékařská fakulta