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De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures.
Brain. 2019 Nov 1;142(11):3351-3359. doi: 10.1093/brain/awz264.
Brain. 2019.
PMID: 31504246
Free PMC article.
QRICH1 variants in Ververi-Brady syndrome-delineation of the genotypic and phenotypic spectrum.
Föhrenbach M, Jamra RA, Borkhardt A, Brozou T, Muschke P, Popp B, Rey LK, Schaper J, Surowy H, Zenker M, Zweier C, Wieczorek D, Redler S.
Föhrenbach M, et al. Among authors: rey lk.
Clin Genet. 2021 Jan;99(1):199-207. doi: 10.1111/cge.13853. Epub 2020 Nov 10.
Clin Genet. 2021.
PMID: 33009816
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Mutations in SMARCB1 and in other Coffin-Siris syndrome genes lead to various brain midline defects.
Filatova A, Rey LK, Lechler MB, Schaper J, Hempel M, Posmyk R, Szczaluba K, Santen GWE, Wieczorek D, Nuber UA.
Filatova A, et al. Among authors: rey lk.
Nat Commun. 2019 Jul 4;10(1):2966. doi: 10.1038/s41467-019-10849-y.
Nat Commun. 2019.
PMID: 31273213
Free PMC article.
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Polymorphisms in genes encoding leptin, ghrelin and their receptors in German multiple sclerosis patients.
Rey LK, Wieczorek S, Akkad DA, Linker RA, Chan A, Hoffjan S.
Rey LK, et al.
Mol Cell Probes. 2011 Oct-Dec;25(5-6):255-9. doi: 10.1016/j.mcp.2011.05.004. Epub 2011 Jun 12.
Mol Cell Probes. 2011.
PMID: 21664965
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Novel association of the CD226 (DNAM-1) Gly307Ser polymorphism in Wegener's granulomatosis and confirmation for multiple sclerosis in German patients.
Wieczorek S, Hoffjan S, Chan A, Rey L, Harper L, Fricke H, Holle JU, Gross WL, Epplen JT, Lamprecht P.
Wieczorek S, et al.
Genes Immun. 2009 Sep;10(6):591-5. doi: 10.1038/gene.2009.44. Epub 2009 Jun 18.
Genes Immun. 2009.
PMID: 19536154
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A Novel ECM1 Splice Site Mutation in Lipoid Proteinosis: Case Report plus Review of the Literature.
Rey LK, Kohlhase J, Möllenhoff K, Dekomien G, Epplen JT, Hoffjan S.
Rey LK, et al.
Mol Syndromol. 2016 Apr;7(1):26-31. doi: 10.1159/000444615. Epub 2016 Mar 15.
Mol Syndromol. 2016.
PMID: 27194970
Free PMC article.
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