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collaborative analysis
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MUDr. Dana Thomasová Ph.D.
Academic staff at Second Faculty of Medicine
5 publications
Publications
publication
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases
2021 |
Second Faculty of Medicine
publication
The most common founder pathogenic variant c.868G > A (p.Val290Met) in the NPHS2 gene in a representative adult Czech cohort with focal segmental glomerulosclerosis is associated with a milder disease and its underdiagnosis in childhood
2023 |
Second Faculty of Medicine, Faculty of Medicine in Pilsen, Third Faculty of Medicine, Faculty of Medicine in Hradec Králové, First Faculty of Medicine
publication
A founder COL4A4 pathogenic variant resulting in autosomal recessive Alport syndrome accounts for most genetic kidney failure in Romani people
2023 |
Second Faculty of Medicine, Central Library of Charles University, Faculty of Medicine in Pilsen, Third Faculty of Medicine
publication
Solving unsolved rare neurological diseases-a Solve-RD viewpoint
2021 |
Second Faculty of Medicine
publication
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data
2021 |
Second Faculty of Medicine
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