Publications
- Mutation detection in the CYP21B gene determining virilized and non-classical forms of steroid 21-hydroxylase deficiency2000 | Second Faculty of Medicine, Central Library of Charles University
- Detection of deletions and uniparental disomies in Prader-Willi and Angelman syndromes - methodical and interpretational aspects2000 | Second Faculty of Medicine
- Molekulová analýza deficience steroidní 21-hydroxylasy1997 | Second Faculty of Medicine, Central Library of Charles University
- Rapid and Efficient Method for Detection of A/C 655G Mutation in Patients with Congenital Steroid 21-hydroxylase Deficiency1996 | Second Faculty of Medicine, Central Library of Charles University
- The brain MR imaging in patients with myotonic dystrophy DM 12007 | Second Faculty of Medicine
- Genotype/phenotype correlation in a SCA1 family: anticipation without CAG expansion2005 | Second Faculty of Medicine
- Absence of spinocerebellar ataxia type 3/Machado-Joseph disease within ataxic patients in the Czech population2005 | Second Faculty of Medicine
- Fluorescent multiplex PCR: Fast method for autosomal dominant spinocerebellar ataxias screening2005 | Second Faculty of Medicine
- Diagnostic possibilities of Prader-Willi and of Angelman syndromes2005 | Second Faculty of Medicine
- Genetic Polymorphisms of UGT 1A1*28 in the TATA-box Promoter Region of Bilirubin Uridinediphosphate-glucuronosyltransferase Gene in Children with Gilbert's Syndrome2005 | Second Faculty of Medicine
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