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endometrial cancer
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doc. RNDr. MUDr. Pavel Ješina Ph.D.
Academic staff at First Faculty of Medicine
85 publications
Publications
publication
Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study
2024 |
First Faculty of Medicine, Faculty of Medicine in Hradec Králové, Second Faculty of Medicine, Faculty of Medicine in Pilsen
publication
Alterations in lipidome profiles distinguish early-onset hyperuricemia, gout, and the effect of urate-lowering treatment
2023 |
First Faculty of Medicine, Faculty of Mathematics and Physics
publication
Late diagnosis of mucopolysaccharidosis type I in a girl with hand contractures
2023 |
First Faculty of Medicine
publication
A random finding of splenomegaly as the main symptom leading to the diagnosis of Niemann‑Pick type B disease in an adult patient
2023 |
First Faculty of Medicine
publication
Autosomal dominant Zellweger spectrum disorder caused by de novo variants in PEX14 gene
2023 |
First Faculty of Medicine
publication
Quantitative brain morphometry identifies cerebellar, cortical, and subcortical gray and white matter atrophy in late-onset Tay-Sachs disease
2023 |
First Faculty of Medicine
publication
Hematopoietic stem cell transplantation in children with inborn errors of metabolism and malignant infantile osteopetrosis
2022 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis
2022 |
Faculty of Science, First Faculty of Medicine
publication
Metabolic myopathies
2022 |
First Faculty of Medicine
publication
Postauthorization safety study of betaine anhydrous
2022 |
First Faculty of Medicine
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