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COL11A1
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publication
Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes
2020 |
Second Faculty of Medicine, Central Library of Charles University, 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
Stickler syndrome in the Czech Republic: phenotypic variability and genetic heterogeneity
2021 |
Second Faculty of Medicine
publication
Familial short stature - a novel phenotype of growth plate collagenopathies
2021 |
Second Faculty of Medicine
publication
High Prevalence of Growth Plate Gene Variants in Children With Familial Short Stature Treated With GH
2019 |
Second Faculty of Medicine
publication
Isolated growth hormone deficiency in children with vertically transmitted short stature: What do the genes tell us?
2023 |
Second Faculty of Medicine