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atp synthase
Person
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Person
Publication
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Mgr. Lenka Nosková Ph.D.
External person at First Faculty of Medicine
33 publications
Publications
publication
Expression and processing of the TMEM70 protein
2011 |
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
TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy
2008 |
First Faculty of Medicine
publication
H-MitoArray and gene expression analysis in 13 patients with mitochondrial ATP synthase deficiency
Publication without faculty affiliation
publication
Development of a human mitochondrial oligonucleotide microarray(H-MitoArray) and gene expression analysis in 13 patients with mitochondrial ATP synthase deficiency
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
publication
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype
2023 |
First Faculty of Medicine
publication
ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability
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
ADAM22 ethnic-specific variant reducing binding of membrane-associated guanylate kinases causes focal epilepsy and behavioural disorder
2023 |
First Faculty of Medicine
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