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Stickler syndrome
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Stickler syndrome in the Czech Republic: phenotypic variability and genetic heterogeneity
2021 |
Second 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
Sticklers Syndrome (Dystrophia Vitreoretinalis Hereditaria). Results of Surgery of Retinal Detachment
2001 |
First Faculty of Medicine
publication
Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes
2020 |
First Faculty of Medicine, Central Library of Charles University, Second Faculty of Medicine
publication
Brittle cornea syndrome: Disease-causing mutations in ZNF469 and two novel variants identified in a patient followed for 26 years
2020 |
First Faculty of Medicine