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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1980 1
1989 1
1990 1
2012 1
2014 2
2015 1
2016 1
2017 3
2019 2
2021 3
2022 5
2023 5
2024 6

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30 results

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Page 1
Milestones in genetics of cerebellar ataxias.
Krygier M, Mazurkiewicz-Bełdzińska M. Krygier M, et al. Neurogenetics. 2021 Oct;22(4):225-234. doi: 10.1007/s10048-021-00656-3. Epub 2021 Jul 5. Neurogenetics. 2021. PMID: 34224032 Free PMC article. Review.
Reflex seizures in rare monogenic epilepsies.
Krygier M, Zawadzka M, Sawicka A, Mazurkiewicz-Bełdzińska M. Krygier M, et al. Seizure. 2022 Apr;97:32-34. doi: 10.1016/j.seizure.2022.03.004. Epub 2022 Mar 10. Seizure. 2022. PMID: 35305402 Free article.
Turbulence tracks recurrent solutions.
Crowley CJ, Pughe-Sanford JL, Toler W, Krygier MC, Grigoriev RO, Schatz MF. Crowley CJ, et al. Among authors: krygier mc. Proc Natl Acad Sci U S A. 2022 Aug 23;119(34):e2120665119. doi: 10.1073/pnas.2120665119. Epub 2022 Aug 19. Proc Natl Acad Sci U S A. 2022. PMID: 35984901 Free PMC article.
Expanding the phenotype of DNAJC30-associated Leigh syndrome.
Zawadzka M, Krygier M, Pawłowicz M, Wilke MVMB, Rutkowska K, Gueguen N, Desquiret-Dumas V, Klee EW, Schimmenti LA, Sławek J, Procaccio V, Płoski R, Mazurkiewicz-Bełdzińska M. Zawadzka M, et al. Among authors: krygier m. Clin Genet. 2022 Nov;102(5):438-443. doi: 10.1111/cge.14196. Epub 2022 Jul 29. Clin Genet. 2022. PMID: 35861300
The epilepsy phenotype of KCNK4-related neurodevelopmental disease.
Krygier M, Ziętkiewicz S, Talaśka-Liczbik W, Chylińska M, Walczak A, Kostrzewa G, Płoski R, Mazurkiewicz-Bełdzińska M. Krygier M, et al. Seizure. 2024 Aug 9;121:114-122. doi: 10.1016/j.seizure.2024.08.008. Online ahead of print. Seizure. 2024. PMID: 39146707 Free article.
De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes.
Scala M, Drouot N, MacLennan SC, Wessels MW, Krygier M, Pavinato L, Telegrafi A, de Man SA, van Slegtenhorst M, Iacomino M, Madia F, Scudieri P, Uva P, Giacomini T, Nobile G, Mancardi MM, Balagura G, Galloni GB, Verrotti A, Umair M, Khan A, Liebelt J, Schmidts M, Langer T, Brusco A, Lipska-Ziętkiewicz BS, Saris JJ, Charlet-Berguerand N, Zara F, Striano P, Piton A. Scala M, et al. Among authors: krygier m. Hum Mutat. 2022 Sep;43(9):1299-1313. doi: 10.1002/humu.24414. Epub 2022 Jun 8. Hum Mutat. 2022. PMID: 35607920 Free PMC article.
Overexpression and Role of HHLA2, a Novel Immune Checkpoint, in Colorectal Cancer.
Kula A, Dawidowicz M, Mielcarska S, Kiczmer P, Skiba H, Krygier M, Chrabańska M, Piecuch J, Szrot M, Robotycka J, Ochman B, Strzałkowska B, Czuba Z, Świętochowska E, Waniczek D. Kula A, et al. Among authors: krygier m. Int J Mol Sci. 2023 Mar 20;24(6):5876. doi: 10.3390/ijms24065876. Int J Mol Sci. 2023. PMID: 36982953 Free PMC article.
30 results