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collaborative analysis
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MUDr. Radka Kremlíková Pourová Ph.D.
Academic staff at Second Faculty of Medicine
30 publications
Publications
publication
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases
2021 |
Second Faculty of Medicine
publication
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features
2024 |
Second Faculty of Medicine
publication
Axenfeld-Rieger syndrome: more than meets the eye
2023 |
Second Faculty of Medicine, First Faculty of Medicine
publication
Long-term anatomical and functional outcomes of surgical treatment of retinal complications in children and adolescents with Stickler syndrome between 2004 and 2021
2023 |
Second Faculty of Medicine
publication
Co-designing models for the communication of genomic results for rare diseases: a comparative study in the Czech Republic and the United Kingdom
2022 |
Second Faculty of Medicine, First Faculty of Medicine
publication
Speech Perception and Production in Cochlear Implant Recipients with Pendred Syndrome
2021 |
Second Faculty of Medicine, Third Faculty of Medicine, First Faculty of Medicine
publication
Stickler syndrome in the Czech Republic: phenotypic variability and genetic heterogeneity
2021 |
Second Faculty of Medicine
publication
Monozygotic twins with Legius syndrome and differential diagnosis of Legius syndrome and neurof bromatosis type 1
2021 |
Second 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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