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Mutational analysis of BRCA1/2 in a group of 134 consecutive ovarian cancer patients. Novel and recurrent BRCA1/2 alterations detected by next generation sequencing.
Ratajska M, Krygier M, Stukan M, Kuźniacka A, Koczkowska M, Dudziak M, Śniadecki M, Dębniak J, Wydra D, Brozek I, Biernat W, Borg A, Limon J, Wasąg B. Ratajska M, et al. Among authors: krygier m. J Appl Genet. 2015 May;56(2):193-8. doi: 10.1007/s13353-014-0254-5. Epub 2014 Nov 1. J Appl Genet. 2015. PMID: 25366421 Free PMC article.
Mild phenotype of a large partial 13q trisomy.
Krygier M, Lipska-Zietkiewicz BS, Koczkowska M, Wierzba J, Limon J. Krygier M, et al. Clin Dysmorphol. 2014 Oct;23(4):155-7. doi: 10.1097/MCD.0000000000000052. Clin Dysmorphol. 2014. PMID: 25144153 No abstract available.
Mitochondrial DNA levels in Huntington disease leukocytes and dermal fibroblasts.
Jędrak P, Krygier M, Tońska K, Drozd M, Kaliszewska M, Bartnik E, Sołtan W, Sitek EJ, Stanisławska-Sachadyn A, Limon J, Sławek J, Węgrzyn G, Barańska S. Jędrak P, et al. Among authors: krygier m. Metab Brain Dis. 2017 Aug;32(4):1237-1247. doi: 10.1007/s11011-017-0026-0. Epub 2017 May 16. Metab Brain Dis. 2017. PMID: 28508341 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
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.
30 results