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Rotor syndrome
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RNDr. Hana Hartmannová Ph.D.
External person at First Faculty of Medicine
46 publications
Publications
publication
Large Copy-Number Variations in Patients With Statin-Associated Myopathy Affecting Statin Myopathy-Related Loci
2016 |
First Faculty of Medicine, Central Library of Charles University
publication
Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver
2012 |
First Faculty of Medicine, Third Faculty of Medicine
publication
Rotor-type hyperbilirubinaemia has no defect in the canalicular bilirubin export pump
2007 |
First Faculty of Medicine, Third Faculty of Medicine
publication
Rotor-type hyperbilirubinaemia has no defect in the canalicular bilirubin export pump
2007 |
Faculty of Physical Education and Sport
publication
Disruption of OVOL2 Distal Regulatory Elements as a Possible Mechanism Implicated in Corneal Endothelial Dystrophy
2024 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Trends in SARS-CoV-2 cycle threshold values in the Czech Republic from April 2020 to April 2022
2023 |
First Faculty of Medicine, Centre for Knowledge and Technology Transfer
publication
A mutation in the SAA1 promoter causes hereditary amyloid A amyloidosis
2022 |
First Faculty of Medicine, Third Faculty of Medicine
publication
AGAL misprocessing-induced ER stress and the unfolded protein response: lysosomal storage-independent mechanism of Fabry disease pathogenesis?
2022 |
First Faculty of Medicine, Third Faculty of Medicine
publication
POLRMT mutations impair mitochondrial transcription causing neurological disease
2021 |
First Faculty of Medicine, Faculty of Physical Education and Sport
publication
Plasma Mucin-1 (CA15-3) Levels in Autosomal Dominant Tubulointerstitial Kidney Disease due to MUC1 Mutations
2021 |
First Faculty of Medicine, Faculty of Medicine in Pilsen
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