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Congenital disorder of glycosylation
Person
Class
Person
Publication
Programmes
MUDr. Robert Rosipal
External person at Faculty of Physical Education and Sport
32 publications
Publications
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
Congenital disorders of glycosylation: biochemical and molecular analyses
Publication without faculty affiliation
publication
Molecular Diagnosis of Rett Syndrome: Detection of the Prevalent Mutations in MeCP2 Gene
2001 |
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 Mutations in MeCP2 Gene
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
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