Katarína Skalická

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Active since

2018

Affiliations

Katarína Skalická is an author at Comenius University Bratislava specializing in molecular genetics, genetics, and polycystic kidney disease genetics.

Publications per year

2018–2023

Publications

Biallelic Cys141Tyr variant of SEL1L is associated with neurodevelopmental disorders, agammaglobulinemia, and premature death

Denisa Weis, Liangguang Leo Lin, Huilun Wang et al. · Journal of Clinical Investigation · 2023 · 30 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Genetic defects in ciliary genes in autosomal dominant polycystic kidney disease

Katarína Skalická, Gabriela Hrčková, Anita Vaská et al. · World Journal of Nephrology · 2018 · 13 citations · Full text

Medicine, Genetics, Molecular Genetics +16

N-Glycoprofiling of SLC35A2-CDG: Patient with a Novel Hemizygous Variant

Rebeka Kodríková, Zuzana Pakanová, Maroš Krchňák et al. · Biomedicines · 2023 · 11 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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