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

53 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Molecular background of polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome in a Polish population: novel AIRE mutations and an estimate of disease prevalence.
Stolarski B, Pronicka E, Korniszewski L, Pollak A, Kostrzewa G, Rowińska E, Włodarski P, Skórka A, Gremida M, Krajewski P, Ploski R. Stolarski B, et al. Among authors: korniszewski l. Clin Genet. 2006 Oct;70(4):348-54. doi: 10.1111/j.1399-0004.2006.00690.x. Clin Genet. 2006. PMID: 16965330
Postlingual hearing loss as a mitochondrial 3243A>G mutation phenotype.
Iwanicka-Pronicka K, Pollak A, Skórka A, Lechowicz U, Pajdowska M, Furmanek M, Rzeski M, Korniszewski L, Skarżyński H, Płoski R. Iwanicka-Pronicka K, et al. Among authors: korniszewski l. PLoS One. 2012;7(10):e44054. doi: 10.1371/journal.pone.0044054. Epub 2012 Oct 25. PLoS One. 2012. PMID: 23133508 Free PMC article.
MTHFR 677T is a strong determinant of the degree of hearing loss among Polish males with postlingual sensorineural hearing impairment.
Pollak A, Mueller-Malesinska M, Lechowicz U, Skorka A, Korniszewski L, Sobczyk-Kopciol A, Waskiewicz A, Broda G, Iwanicka-Pronicka K, Oldak M, Skarzynski H, Płoski R. Pollak A, et al. Among authors: korniszewski l. DNA Cell Biol. 2012 Jul;31(7):1267-73. doi: 10.1089/dna.2012.1607. Epub 2012 Mar 16. DNA Cell Biol. 2012. PMID: 22424391 Free PMC article.
Dominant ELOVL1 mutation causes neurological disorder with ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic features.
Kutkowska-Kaźmierczak A, Rydzanicz M, Chlebowski A, Kłosowska-Kosicka K, Mika A, Gruchota J, Jurkiewicz E, Kowalewski C, Pollak A, Stradomska TJ, Kmieć T, Jakubowski R, Gasperowicz P, Walczak A, Śladowski D, Jankowska-Steifer E, Korniszewski L, Kosińska J, Obersztyn E, Nowak W, Śledziński T, Dziembowski A, Płoski R. Kutkowska-Kaźmierczak A, et al. Among authors: korniszewski l. J Med Genet. 2018 Jun;55(6):408-414. doi: 10.1136/jmedgenet-2017-105172. Epub 2018 Mar 1. J Med Genet. 2018. PMID: 29496980
53 results