Publications
- Congenital Disorders of Glycosylation Type Ia: Clinical, Biochemical and Molecular Analyses in Two Siblings with Cerebellar Hypoplasia2003 | First Faculty of Medicine
- Clinical and Molecular Analyses in Eight Children with Congenital Disorders of Glycosylation2003 | First Faculty of Medicine
- Protein glycosylation disorders, (CDG syndrome): molecular and biochemical charakteristics of family with CDG type IaPublication without faculty affiliation
- Molecular Diagnosis of Rett Syndrome: Detection of the Prevalent Mutations in MeCP2 Gene2001 | First Faculty of Medicine
- The detection of hot spot mutations in exon three of MECP2 gene in Rett syndrom patients of Slavic origin2001 | Faculty of Physical Education and Sport
- Molecular Diagnosis of Rett Syndrome: Detection of the Prevalent Mutations in MeCP2 Gene2001 | Faculty of Physical Education and Sport
- Molecular diagnosis of Rett syndrome: Detection of the prevalent mutation in MeCP2 gene in Czech and Slovak patients2001 | Faculty of Physical Education and Sport
- Congenital erythropoietic porphyria (Gunther disease)2001 | Faculty of Physical Education and Sport
- Human coproporphyrinogen oxidase: biochemical characterization of wild-type enzyme and its naturally occurring R331W mutant form2001 | Faculty of Physical Education and Sport
- In frame deletion of glycin 390 in coproporphyrinogen oxidase gene as a cause of hereditary coproporphyria2001 | Faculty of Physical Education and Sport
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