Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

30 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
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.
Effects of idebenone treatment in a patient with DNAJC30-associated Leigh Syndrome.
Dzwilewski K, Chojnowski K, Krygier M, Zawadzka M, Chylińska M, Mazurkiewicz-Bełdzińska M. Dzwilewski K, et al. Among authors: krygier m. Neurol Neurochir Pol. 2024;58(4):468-470. doi: 10.5603/pjnns.100423. Epub 2024 Aug 12. Neurol Neurochir Pol. 2024. PMID: 39132756 Free article. No abstract available.
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.
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.
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
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.
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.
30 results