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Clinical genetics
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Mgr. Klára Maratová Ph.D.
External academic staff at Second Faculty of Medicine
17 publications
Publications
publication
SALL4 phenotype in four generations of one family: An interplay of the upper limb, kidneys, and the pituitary
2024 |
Second Faculty of Medicine
publication
Genetic testing of children with familial tall stature: is it worth doing?
2024 |
Second Faculty of Medicine
publication
A comprehensive validation study of the latest version of BoneXpert on a large cohort of Caucasian children and adolescents
2023 |
Second Faculty of Medicine, Faculty of Mathematics and Physics, Faculty of Science
publication
Isolated growth hormone deficiency in children with vertically transmitted short stature: What do the genes tell us?
2023 |
Second Faculty of Medicine
publication
Analysis of children with familial short stature: who should be indicated for genetic testing?
2023 |
Second Faculty of Medicine
publication
Familial short stature - a novel phenotype of growth plate collagenopathies
2021 |
Second Faculty of Medicine
publication
It won't work the usual way - first steps with the new treatment of X-linked hypophosphatemia
2021 |
Second Faculty of Medicine
publication
NPR2 Variants Are Frequent among Children with Familiar Short Stature and Respond Well to Growth Hormone Therapy
2020 |
Second Faculty of Medicine
publication
Onemocnění skeletu u dětí
2019 |
Second Faculty of Medicine, First Faculty of Medicine, Third Faculty of Medicine
publication
Muscle functions and bone strength are impaired in adolescents with type 1 diabetes
2018 |
Second Faculty of Medicine, Faculty of Mathematics and Physics
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