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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
Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant
2022 |
2. lékařská fakulta
publication
Telemedicine strategy of the European Reference Network ITHACA for the diagnosis and management of patients with rare developmental disorders
2020 |
2. lékařská fakulta
publication
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases
2021 |
2. lékařská fakulta
publication
Solve-RD: the ITHACA perspective
Publikace bez příslušnosti k fakultě