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Year Number of Results
2013 1
2014 3
2015 1
2016 1
2017 4
2019 3
2020 2
2021 6
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Page 1
Passive Transfer of Sera from ALS Patients with Identified Mutations Evokes an Increased Synaptic Vesicle Number and Elevation of Calcium Levels in Motor Axon Terminals, Similar to Sera from Sporadic Patients.
Meszlényi V, Patai R, Polgár TF, Nógrádi B, Körmöczy L, Kristóf R, Spisák K, Tripolszki K, Széll M, Obál I, Engelhardt JI, Siklós L. Meszlényi V, et al. Among authors: tripolszki k. Int J Mol Sci. 2020 Aug 3;21(15):5566. doi: 10.3390/ijms21155566. Int J Mol Sci. 2020. PMID: 32756522 Free PMC article.
CTSC and Papillon-Lefèvre syndrome: detection of recurrent mutations in Hungarian patients, a review of published variants and database update.
Nagy N, Vályi P, Csoma Z, Sulák A, Tripolszki K, Farkas K, Paschali E, Papp F, Tóth L, Fábos B, Kemény L, Nagy K, Széll M. Nagy N, et al. Among authors: tripolszki k. Mol Genet Genomic Med. 2014 May;2(3):217-28. doi: 10.1002/mgg3.61. Epub 2014 Feb 11. Mol Genet Genomic Med. 2014. PMID: 24936511 Free PMC article. Review.
Delineating the genetic heterogeneity of OCA in Hungarian patients.
Fábos B, Farkas K, Tóth L, Sulák A, Tripolszki K, Tihanyi M, Németh R, Vas K, Csoma Z, Kemény L, Széll M, Nagy N. Fábos B, et al. Among authors: tripolszki k. Eur J Med Res. 2017 Jun 19;22(1):20. doi: 10.1186/s40001-017-0262-0. Eur J Med Res. 2017. PMID: 28629449 Free PMC article.
Biallelic ZNFX1 variants are associated with a spectrum of immuno-hematological abnormalities.
Alawbathani S, Westenberger A, Ordonez-Herrera N, Al-Hilali M, Al Hebby H, Alabbas F, Alhashem AM, Elyamany G, Megarbane A, Kose M, Alhashmi N, Al Sukaiti N, Al-Raqad M, Al-Tawalbeh S, Abu Adas Blanco O, Alkhattabi F, Sng D, Al-Ali R, Khan S, Tawamie H, Tripolszki K, Karageorgou V, Trunzo R, Al Mutairi F, Reversade B, Bauer P, Bertoli-Avella AM. Alawbathani S, et al. Among authors: tripolszki k. Clin Genet. 2021 Oct 27. doi: 10.1111/cge.14081. Online ahead of print. Clin Genet. 2021. PMID: 34708404
19 results