Classes
- PaediatricsB00141 | First Faculty of Medicine
- Propaedeutics in Paediatrics - Summer PracticeB00609 | First Faculty of Medicine
- Propaedeutics in Paediatrics +2B00610 | First Faculty of Medicine
- Paediatrics Practice before State ExaminationB01057 | First Faculty of Medicine
- Paediatrics - Summer Practice +1B03304 | First Faculty of Medicine
- Pediatric Nursing 1B03453 | First Faculty of Medicine
- Paediatric Nursing 2B03468 | First Faculty of Medicine
- Paediatrics SEB80141 | First Faculty of Medicine
- Curriculum of Paediatrics before State ExaminationB81057 | First Faculty of Medicine
Publications
- Effect of a novel intronic FBN1 mutation on splicing revealed by splicing minigene assayPublication without faculty affiliation
- Hepatocellular carcinoma in an infant with tyrosinemia type 12023 | First Faculty of Medicine, Second Faculty of Medicine
- Case report: A rare variant m.4135T>C in the MT-ND1 gene leads to Leber hereditary optic neuropathy and altered respiratory chain supercomplexes +12023 | Faculty of Science, First Faculty of Medicine
- Genetic findings in Czech patients with limb girdle muscular dystrophy2023 | First Faculty of Medicine, Second Faculty of Medicine
- První český pacient s deficitem aminoacylázy 12023 | First Faculty of Medicine
- Inherited disorders of carbohydrate metabolism2023 | First Faculty of Medicine
- Late diagnosis of mucopolysaccharidosis type I in a girl with hand contractures2023 | First Faculty of Medicine
- Complex metabolic disharmony in PMM2-CDG paves the way to new therapeutic approaches2023 | First Faculty of Medicine
- Metabolic adaptation of human skin fibroblasts to ER stress caused by glycosylation defect in PMM2-CDG2023 | First Faculty of Medicine
- Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes2023 | First Faculty of Medicine
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