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gene-A
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Ing. Kateřina Veselá Ph.D.
Academic staff at First Faculty of Medicine
70 publications
Publications
publication
High-resolution melting analysis of 15 genes in 60 patients with cytochrome-c oxidase deficiency
2012 |
First Faculty of Medicine
publication
Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency
2012 |
First Faculty of Medicine
publication
Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis
2012 |
First Faculty of Medicine
publication
Sco2 Protein Deficiency-Based Mitochondrial Encephalomyopathy with the SMA-like Picture of Neurogenic Muscle Atrophy - Case Reports
2010 |
First Faculty of Medicine
publication
A new case of ALG8 deficiency (CDG Ih)
2009 |
First Faculty of Medicine, Third Faculty of Medicine
publication
Ultrastructural and functional abnormalities of mitochondria in cultivated fibroblasts from alpha-mannosidosis patients
2009 |
First Faculty of Medicine
publication
Cytosine-Adenosine (CA)(n) repeats polymorphism in IGF-I gene and early growth in infants born appropriate and small for gestational age
2009 |
First Faculty of Medicine
publication
SURF1 missense mutations promote a mild Leigh phenotype
2009 |
First Faculty of Medicine
publication
Cytochrome C oxidase deficiency in childhood
2009 |
First Faculty of Medicine
publication
Loss of function of Sco1 and its interaction with cytochrome c oxidase
2009 |
First Faculty of Medicine
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