Katarina Skalicka
Bratislava, BL 83340, Slovakia
Last Updated: 09/26/2026
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Found 8 publications
Insights into ALG3-CDG: A case study combining glycan profiling and genetic analysis.
Journal: Molecular genetics and metabolism reports
Published: February 21, 2025
Biallelic Cys141Tyr variant of SEL1L is associated with neurodevelopmental disorders, agammaglobulinemia, and premature death.
Journal: The Journal of clinical investigation
Published: March 29, 2023
N-Glycoprofiling of SLC35A2-CDG: Patient with a Novel Hemizygous Variant.
Journal: Biomedicines
Published: December 16, 2022
Chronic pancreatitis with polycystic kidney disease: A rare coincidence?
Journal: Nefrologia
Published: April 10, 2019
Diagnosis and treatment of juvenile myelomonocytic leukemia in Slovak Republic: novel approaches.
Journal: Neoplasma
Published: December 31, 2018
Genetic defects in ciliary genes in autosomal dominant polycystic kidney disease.
Journal: World journal of nephrology
Published: December 12, 2017
Pilot Study of the Occurrence of Somatic Mutations in Ciliary Signalling Pathways as a Contribution Factor to Autosomal Dominant Polycystic Kidney Development.
Journal: Folia biologica
Published: January 01, 2017
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Last Updated: 09/26/2026