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phosphorylation
Person
Class
Person
Publication
Programmes
prof. Ing. Stanislav Kmoch CSc.
Academic staff at First Faculty of Medicine
2 classes
206 publications
Classes
class
Application of DNA Chips in diagnostics of genetically determined diseases
B01682 |
First Faculty of Medicine
class
Practical Course of Aplication of DNA chip technology in diagnosis of genetic disorders
B81682 |
First Faculty of Medicine
Publications
publication
Compensatory upregulation of respiratory chain complexes III and IV in isolated deficiency of ATP synthase due to TMEM70 mutation
2012 |
First Faculty of Medicine
publication
Adaptation of respiratory chain biogenesis to cytochrome c oxidase deficiency caused by SURF1 gene mutations
2012 |
First Faculty of Medicine
publication
HIF and reactive oxygen species regulate oxidative phosphorylation in cancer
2008 |
First Faculty of Medicine
publication
Development of a human mitochondrial oligonucleotide microarray (h-MitoArray) and gene expression analysis of fibroblast cell lines from 13 patients with isolated FIFo ATP synthase deficiency
2008 |
First Faculty of Medicine
publication
Spontaneous nonsense mutation in the tuftelin 1 gene is associated with abnormal hair appearance and amelioration of glucose and lipid metabolism in the rat
2024 |
First Faculty of Medicine, Third Faculty of Medicine, Central Library of Charles University
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
Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease
2023 |
First Faculty of Medicine, Third Faculty of Medicine, Central Library of Charles University, 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
Maternal health and pregnancy outcomes in autosomal dominant tubulointerstitial kidney disease
2023 |
First Faculty of Medicine
publication
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype
2023 |
First Faculty of Medicine
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