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List of works by Radka Kremlíková Pourová

A boy with developmental delay and mosaic supernumerary inv dup(5)(p15.33p15.1) leading to distal 5p tetrasomy - case report and review of the literature.

scientific article

Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes

scientific article published on 19 May 2020

Pendred syndrome among patients with congenital hypothyroidism detected by neonatal screening: identification of two novel PDS/SLC26A4 mutations

scientific article published on 18 September 2007

The Key Role of Purine Metabolism in the Folate-Dependent Phenotype of Autism Spectrum Disorders: An In Silico Analysis

scientific article published on 06 May 2020

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