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molecular genetics
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prof. MUDr. Tomáš Honzík Ph.D.
Academic staff at First Faculty of Medicine
12 classes
251 publications
Classes
class
Paediatrics
B00141 |
First Faculty of Medicine
class
Propaedeutics in Paediatrics - Summer Practice
B00609 |
First Faculty of Medicine
class
Propaedeutics in Paediatrics
+2
B00610 |
First Faculty of Medicine
class
Paediatrics Practice before State Examination
B01057 |
First Faculty of Medicine
class
Paediatrics - Summer Practice
+1
B03304 |
First Faculty of Medicine
class
Pediatric Nursing 1
B03453 |
First Faculty of Medicine
class
Paediatric Nursing 2
B03468 |
First Faculty of Medicine
class
Paediatrics SE
B80141 |
First Faculty of Medicine
class
Curriculum of Paediatrics before State Examination
B81057 |
First Faculty of Medicine
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Publications
publication
Mosaic tissue distribution of the tandem duplication of LAMP2 exons 4 and 5 demonstrates the limits of Danon disease cellular and molecular diagnostics
2014 |
First Faculty of Medicine, Second 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
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
Biochemical nad molecular characteristics in 11 czech children with tyrosinemia type I
2010 |
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
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
Hepatocellular carcinoma in an infant with tyrosinemia type 1
2023 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Case report: A rare variant m.4135T>C in the MT-ND1 gene leads to Leber hereditary optic neuropathy and altered respiratory chain supercomplexes
+1
2023 |
Faculty of Science, First Faculty of Medicine
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