Skalická K - Search Results

1

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.

2

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.

3

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.

4

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. Skalická K, et al. Folia Biol (Praha). 2017;63(5-6):174-181. Folia Biol (Praha). 2017. PMID: 29687770 Free article.

5

Chronic pancreatitis with polycystic kidney disease: A rare coincidence?

Hrčková G, Hegyi E, Skalická K, Čierna I, Dallos T, Ilenčíková D. Hrčková G, et al. Among authors: skalicka k. 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.

6

[No title available]

[No authors listed] [No authors listed] PMID: 31088105

7

Diagnosis and treatment of juvenile myelomonocytic leukemia in Slovak Republic: novel approaches.

Fabri O, Horakova J, Bodova I, Svec P, Laluhova Striezencova Z, Bubanska E, Cermak M, Galisova V, Skalicka K, Vaska A, Doczyova D, Panikova A, Sykora T, Adamcakova J, Kolenova A. Fabri O, et al. Among authors: skalicka k. Neoplasma. 2019 Sep;66(5):818-824. doi: 10.4149/neo_2018_181231N1009. Epub 2019 May 11. Neoplasma. 2019. PMID: 31129971

8

Clinical impact of genomic analysis in children with B-acute lymphoblastic leukemia: A pilot study in Slovakia.

Vaska A, Makohusova M, Plevova K, Skalicka K, Cermak M, Chovanec F, Fabri O, Svec P, Kolenova A. Vaska A, et al. Among authors: skalicka k. Neoplasma. 2019 Nov;66(6):1009-1018. doi: 10.4149/neo_2019_190328N274. Epub 2019 Aug 4. Neoplasma. 2019. PMID: 31390871

9

Preferential elimination of repeated DNA sequences from the paternal, Nicotiana tomentosiformis genome donor of a synthetic, allotetraploid tobacco.

Skalická K, Lim KY, Matyasek R, Matzke M, Leitch AR, Kovarik A. Skalická K, et al. New Phytol. 2005 Apr;166(1):291-303. doi: 10.1111/j.1469-8137.2004.01297.x. New Phytol. 2005. PMID: 15760371 Free article.

10

Dynamic changes in the distribution of a satellite homologous to intergenic 26-18S rDNA spacer in the evolution of Nicotiana.

Lim KY, Skalicka K, Koukalova B, Volkov RA, Matyasek R, Hemleben V, Leitch AR, Kovarik A. Lim KY, et al. Among authors: skalicka k. Genetics. 2004 Apr;166(4):1935-46. doi: 10.1534/genetics.166.4.1935. Genetics. 2004. PMID: 15126410 Free PMC article.

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