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Novel A18T and pA29S substitutions in α-synuclein may be associated with sporadic Parkinson's disease.
Parkinsonism Relat Disord. 2013 Nov;19(11):1057-1060. doi: 10.1016/j.parkreldis.2013.07.011. Epub 2013 Aug 2.
Parkinsonism Relat Disord. 2013.
PMID: 23916651
Free PMC article.
The power of the Mediator complex-Expanding the genetic architecture and phenotypic spectrum of MED12-related disorders.
Charzewska A, Maiwald R, Kahrizi K, Oehl-Jaschkowitz B, Dufke A, Lemke JR, Enders H, Najmabadi H, Tzschach A, Hachmann W, Jensen C, Bienek M, Poznański J, Nawara M, Chilarska T, Obersztyn E, Hoffman-Zacharska D, Gos M, Bal J, Kalscheuer VM.
Charzewska A, et al.
Clin Genet. 2018 Nov;94(5):450-456. doi: 10.1111/cge.13412. Epub 2018 Aug 9.
Clin Genet. 2018.
PMID: 30006928
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Novel and recurrent variants of ATP2C1 identified in patients with Hailey-Hailey disease.
Sawicka J, Kutkowska-Kaźmierczak A, Woźniak K, Tysarowski A, Osipowicz K, Poznański J, Rygiel AM, Braun-Walicka N, Niepokój K, Bal J, Kowalewski C, Wertheim-Tysarowska K.
Sawicka J, et al.
J Appl Genet. 2020 May;61(2):187-193. doi: 10.1007/s13353-020-00538-8. Epub 2020 Jan 25.
J Appl Genet. 2020.
PMID: 31983024
Free PMC article.
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Prostaglandin-endoperoxide synthase genes COX1 and COX2 - novel modifiers of disease severity in cystic fibrosis patients.
Czerska K, Sobczynska-Tomaszewska A, Sands D, Nowakowska A, Bak D, Wertheim K, Poznanski J, Zielenski J, Norek A, Bal J.
Czerska K, et al.
J Appl Genet. 2010;51(3):323-30. doi: 10.1007/BF03208862.
J Appl Genet. 2010.
PMID: 20720307
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