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Chronic pancreatitis with polycystic kidney disease: A rare coincidence?
Nefrologia (Engl Ed). 2020 May-Jun;40(3):351-355. doi: 10.1016/j.nefro.2019.09.003. Epub 2019 Dec 18.
Nefrologia (Engl Ed). 2020.
PMID: 31862184
Free article.
Review.
English, Spanish.
Biallelic Cys141Tyr variant of SEL1L is associated with neurodevelopmental disorders, agammaglobulinemia, and premature death.
Weis D, Lin LL, Wang HH, Li ZJ, Kusikova K, Ciznar P, Wolf HM, Leiss-Piller A, Wang Z, Wei X, Weis S, Skalicka K, Hrckova G, Danisovic L, Soltysova A, Yang TT, Feichtinger RG, Mayr JA, Qi L.
Weis D, et al. Among authors: skalicka k.
J Clin Invest. 2024 Jan 16;134(2):e170882. doi: 10.1172/JCI170882.
J Clin Invest. 2024.
PMID: 37943617
Free PMC article.
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N-Glycoprofiling of SLC35A2-CDG: Patient with a Novel Hemizygous Variant.
Kodríková R, Pakanová Z, Krchňák M, Šedivá M, Šesták S, Květoň F, Beke G, Šalingová A, Skalická K, Brennerová K, Jančová E, Baráth P, Mucha J, Nemčovič M.
Kodríková R, et al. Among authors: skalicka k.
Biomedicines. 2023 Feb 16;11(2):580. doi: 10.3390/biomedicines11020580.
Biomedicines. 2023.
PMID: 36831116
Free PMC article.
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Genetic defects in ciliary genes in autosomal dominant polycystic kidney disease.
Skalická K, Hrčková G, Vaská A, Baranyaiová Á, Kovács L.
Skalická K, et al.
World J Nephrol. 2018 Mar 6;7(2):65-70. doi: 10.5527/wjn.v7.i2.65.
World J Nephrol. 2018.
PMID: 29527510
Free PMC article.
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