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DNA diagnosis
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MUDr. Robert Rosipal
External person at Faculty of Physical Education and Sport
32 publications
Publications
publication
Molecular Diagnosis of Rett Syndrome: Detection of the Prevalent Mutations in MeCP2 Gene
2001 |
First Faculty of Medicine
publication
Molecular Diagnosis of Rett Syndrome: Detection of the Prevalent Mutations in MeCP2 Gene
2001 |
Faculty of Physical Education and Sport
publication
Congenital Disorders of Glycosylation Type Ia: Clinical, Biochemical and Molecular Analyses in Two Siblings with Cerebellar Hypoplasia
2003 |
First Faculty of Medicine
publication
Clinical and Molecular Analyses in Eight Children with Congenital Disorders of Glycosylation
2003 |
First Faculty of Medicine
publication
The detection of hot spot mutations in exon three of MECP2 gene in Rett syndrom patients of Slavic origin
2001 |
Faculty of Physical Education and Sport
publication
Molecular diagnosis of Rett syndrome: Detection of the prevalent mutation in MeCP2 gene in Czech and Slovak patients
2001 |
Faculty of Physical Education and Sport
publication
Congenital erythropoietic porphyria (Gunther disease)
2001 |
Faculty of Physical Education and Sport
publication
Human coproporphyrinogen oxidase: biochemical characterization of wild-type enzyme and its naturally occurring R331W mutant form
2001 |
Faculty of Physical Education and Sport
publication
In frame deletion of glycin 390 in coproporphyrinogen oxidase gene as a cause of hereditary coproporphyria
2001 |
Faculty of Physical Education and Sport
publication
Patients with Rett syndrome from Czech and Slovak republic: mutation analysis of MECP2 gene
Publication without faculty affiliation
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