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List of works by Anita Skakic

CRISPR/Cas9 genome editing of SLC37A4 gene elucidates the role of molecular markers of endoplasmic reticulum stress and apoptosis in renal involvement in glycogen storage disease type Ib

scientific article published on 03 April 2019

Functional Characterization of Novel Phenylalanine Hydroxylase p.Gln226Lys Mutation Revealed Its Non-responsiveness to Tetrahydrobiopterin Treatment in Hepatoma Cellular Model.

scientific article published on 13 April 2018

Genetic characterization of GSD I in Serbian population revealed unexpectedly high incidence of GSD Ib and three novel SLC37A4 variants

scientific article published on 7 July 2017

Genomic profiling supports the diagnosis of primary ciliary dyskinesia and reveals novel candidate genes and genetic variants

scientific article published in PLoS ONE

Impact of genotype on neutropenia in a large cohort of Serbian patients with glycogen storage disease type Ib

scientific article published on 16 September 2019

Molecular genetic study of congenital adrenal hyperplasia in Serbia: novel p.Leu129Pro and p.Ser165Pro CYP21A2 gene mutations.

scientific article published on 2 August 2015

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