Chronic pancreatitis with polycystic kidney disease: A rare coincidence?
Hrčková, Gabriela, Hegyi, Eszter, Skalická, Katarína, Čierna, Iveta, Dallos, Tomáš, Ilenčíková, Denisa
Published in Nefrología (01.05.2020)
Published in Nefrología (01.05.2020)
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IN/I-Glycoprofiling of SLC35A2-CDG: Patient with a Novel Hemizygous Variant
Kodríková, Rebeka, Pakanová, Zuzana, Krchňák, Maroš, Šedivá, Mária, Šesták, Sergej, Květoň, Filip, Beke, Gábor, Šalingová, Anna, Skalická, Katarína, Brennerová, Katarína, Jančová, Emília, Baráth, Peter, Mucha, Ján, Nemčovič, Marek
Published in Biomedicines (01.02.2023)
Published in Biomedicines (01.02.2023)
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Genetic defects in ciliary genes in autosomal dominant polycystic kidney disease
Skalická, Katarína, Hrčková, Gabriela, Vaská, Anita, Baranyaiová, Ágnes, Kovács, László
Published in World journal of nephrology (06.03.2018)
Published in World journal of nephrology (06.03.2018)
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Pilot Study of the Occurrence of Somatic Mutations in Ciliary Signalling Pathways as a Contribution Factor to Autosomal Dominant Polycystic Kidney Development
Skalická, K, Hrčková, G, Vaská, A, Baranyaiová, A, Janega, P, Žilinská, Z, Daniš, D, Kovács, L
Published in Folia biologica (01.01.2017)
Published in Folia biologica (01.01.2017)
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N -Glycoprofiling of SLC35A2-CDG: Patient with a Novel Hemizygous Variant
Kodríková, Rebeka, Pakanová, Zuzana, Krchňák, Maroš, Šedivá, Mária, Šesták, Sergej, Květoň, Filip, Beke, Gábor, Šalingová, Anna, Skalická, Katarína, Brennerová, Katarína, Jančová, Emília, Baráth, Peter, Mucha, Ján, Nemčovič, Marek
Published in Biomedicines (16.02.2023)
Published in Biomedicines (16.02.2023)
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Biallelic Cys141Tyr variant of SEL1L is associated with neurodevelopmental disorders, agammaglobulinemia, and premature death
Weis, Denisa, Lin, Liangguang L, Wang, Huilun H, Li, Zexin Jason, Kusikova, Katarina, Ciznar, Peter, Wolf, Hermann M, Leiss-Piller, Alexander, Wang, Zhihong, Wei, Xiaoqiong, Weis, Serge, Skalicka, Katarina, Hrckova, Gabriela, Danisovic, Lubos, Soltysova, Andrea, Yang, Tingxuan T, Feichtinger, René Günther, Mayr, Johannes A, Qi, Ling
Published in The Journal of clinical investigation (16.01.2024)
Published in The Journal of clinical investigation (16.01.2024)
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