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De novo
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MUDr. Radka Kremlíková Pourová Ph.D.
Academic staff at Second Faculty of Medicine
30 publications
Publications
publication
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features
2024 |
Second Faculty of Medicine
publication
Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes
2020 |
Second Faculty of Medicine, First Faculty of Medicine, Central Library of Charles University
publication
Hereditary hyperferritinemia-cataract syndrome in three Czech families: molecular genetic testing and clinical implications
2020 |
Second Faculty of Medicine, First Faculty of Medicine
publication
Under the mask of Kabuki syndrome: Elucidation of genetic-and phenotypic heterogeneity in patients with Kabuki-like phenotype
2018 |
Second Faculty of Medicine
publication
Molecular Cytogenetic Diagnostics of Marker Chromosomes: Analysis in Four Prenatal Cases and Long-Term Clinical Evaluation of Carriers
2018 |
Second Faculty of Medicine
publication
Molecular genetic analysis in 14 Czech Kabuki syndrome patients is confirming the utility of phenotypic scoring
2016 |
Second Faculty of Medicine, First Faculty of Medicine, Faculty of Medicine in Hradec Králové, Faculty of Physical Education and Sport
publication
Long Term Follow-Up in a Patient with a De Novo Microdeletion of 14q11.2 Involving CHD8
2015 |
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
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