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K-function
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RNDr. Hana Hartmannová Ph.D.
External person at First Faculty of Medicine
46 publications
Publications
publication
POLRMT mutations impair mitochondrial transcription causing neurological disease
2021 |
First Faculty of Medicine, Faculty of Physical Education and Sport
publication
Quality of life in patients with autosomal dominant tubulointerstitial kidney disease
2019 |
First Faculty of Medicine
publication
Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia
2016 |
First Faculty of Medicine
publication
Mutation of Nogo-B Receptor, a Subunit of cis-Prenyltransferase, Causes a Congenital Disorder of Glycosylation
2014 |
First Faculty of Medicine
publication
Mutations in ANTXR1 Cause GAPO Syndrome
2013 |
First Faculty of Medicine
publication
Cerebellar dysfunction in a family harboring the PSEN1 mutation co-segregating with a Cathepsin D variant p.A58V
2013 |
First Faculty of Medicine
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
Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis
2011 |
First Faculty of Medicine
publication
Preparation, validation and clinical application of an automated test procedure for the determination of Covid-19 in clinical material
Publication without faculty affiliation
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
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