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MUTATIONS
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MUDr. Jana Křenek Malíková Ph.D.
External person at Second Faculty of Medicine
23 publications
Publications
publication
Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study
2020 |
Second Faculty of Medicine
publication
HIV Drug Efavirenz Inhibits CYP21A2 Activity with Possible Clinical Implications
2019 |
Second Faculty of Medicine
publication
Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial
2019 |
Second Faculty of Medicine
publication
Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populations
2016 |
Second Faculty of Medicine
publication
High incidence of heterozygous ABCC8 and HNF1A mutations in Czech patients with congenital hyperinsulinism
2015 |
Second Faculty of Medicine, Third Faculty of Medicine, First Faculty of Medicine
publication
McCune Albright syndrome and bilateral adrenal hyperplasia: the GNAS mutation may only be present in adrenal tissue
2015 |
Second Faculty of Medicine
publication
Human NR5A1/SF-1 Mutations Show Decreased Activity on BDNF (Brain-Derived Neurotrophic Factor), an Important Regulator of Energy Balance: Testing Impact of Novel SF-1 Mutations Beyond Steroidogenesis
2014 |
Second Faculty of Medicine
publication
Novel Insight into Etiology, Diagnosis and Management of Primary Adrenal Insufficiency
2014 |
Second Faculty of Medicine
publication
Genetic analysis of the CYP21A2 gene in neonatal dried blood spots from children with transiently elevated 17-hydroxyprogesterone
2012 |
Second Faculty of Medicine, Third Faculty of Medicine
publication
Regulation of energy balance and eating behaviour
2023 |
Second Faculty of Medicine, Third Faculty of Medicine
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