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Mitochondrial diseases
Person
Class
Person
Publication
Programmes
doc. MUDr. Martin Magner Ph.D.
Academic staff at First Faculty of Medicine
4 classes
119 publications
Classes
class
Child Nutrition II.
+1
B02740 |
First Faculty of Medicine
class
Child Nutrition I.
+1
B03291 |
First Faculty of Medicine
Publications
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
Myoclonic Epilepsy and Deafness in Siblings with the 7512T>C Mutation in the Mitochondrial Encoded tRNA(Ser(UCN)) Gene - Case Reports
2010 |
Faculty of Science, Faculty of Physical Education and Sport, First Faculty of Medicine, Faculty of Medicine in Hradec Králové
publication
Myoclonic Epilepsy and Deafness in Siblings with the 7512T > C Mutation in the Mitochondrial Encoded tRNA(Ser(UCN)) Gene - Case Reports
2010 |
First Faculty of Medicine
publication
Clinical symptoms and laboratory data in 75 children with neonatal manifestation of mitochondrial disease: Proposed diagnostics algorithms
2010 |
First Faculty of Medicine
publication
Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation
2010 |
First Faculty of Medicine
publication
Cytochrome C oxidase deficiency in childhood
2009 |
First Faculty of Medicine
publication
Adenotonsillar pathology in mucopolysaccharidoses - lysosomal storage predominates in paracortical CD63+ cells
2024 |
First Faculty of Medicine, Second Faculty of Medicine
publication
B cell phenotype and serum levels of interferons, BAFF, and APRIL in multisystem inflammatory syndrome in children associated with COVID-19 (MIS-C)
2023 |
First Faculty of Medicine, Second Faculty of Medicine, Faculty of Medicine in Pilsen
publication
Tuberculous spondylitis or Pott's disease - a relic of the past?
2023 |
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
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