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methodics
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MUDr. Radka Kremlíková Pourová Ph.D.
Academic staff at Second Faculty of Medicine
30 publications
Publications
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
Hereditary hyperferritinemia-cataract syndrome in three Czech families: molecular genetic testing and clinical implications
2020 |
Second Faculty of Medicine, First Faculty of Medicine
publication
The key role of purine metabolism in the folate-dependent phenotype of autism spectrum disorders: An in silico analysis
2020 |
Second Faculty of Medicine
publication
The Gen-Equip Project: evaluation and impact of genetics e-learning resources for primary care in six European languages
2019 |
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
Pendred syndrome among patients with congenital hypothyroidism detected by neonatal screening: identification of two novel PDS/SLC26A4 mutations
2008 |
Second Faculty of Medicine, Third Faculty of Medicine
publication
Two supernumerary marker-chromosomes in a healthy woman: a case report
Publication without faculty affiliation
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