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New mutations in the ATM gene and clinical data of 25 AT patients.
Demuth I, Dutrannoy V, Marques W Jr, Neitzel H, Schindler D, Dimova PS, Chrzanowska KH, Bojinova V, Gregorek H, Graul-Neumann LM, von Moers A, Schulze I, Nicke M, Bora E, Cankaya T, Oláh É, Kiss C, Bessenyei B, Szakszon K, Gruber-Sedlmayr U, Kroisel PM, Sodia S, Goecke TO, Dörk T, Digweed M, Sperling K, de Sá J, Lourenco CM, Varon R. Demuth I, et al. Neurogenetics. 2011 Nov;12(4):273-82. doi: 10.1007/s10048-011-0299-0. Epub 2011 Oct 2. Neurogenetics. 2011. PMID: 21965147
Spectrum of mutations in the Fanconi anaemia group G gene, FANCG/XRCC9.
Demuth I, Wlodarski M, Tipping AJ, Morgan NV, de Winter JP, Thiel M, Gräsl S, Schindler D, D'Andrea AD, Altay C, Kayserili H, Zatterale A, Kunze J, Ebell W, Mathew CG, Joenje H, Sperling K, Digweed M. Demuth I, et al. Eur J Hum Genet. 2000 Nov;8(11):861-8. doi: 10.1038/sj.ejhg.5200552. Eur J Hum Genet. 2000. PMID: 11093276
Nibrin functions in Ig class-switch recombination.
Kracker S, Bergmann Y, Demuth I, Frappart PO, Hildebrand G, Christine R, Wang ZQ, Sperling K, Digweed M, Radbruch A. Kracker S, et al. Among authors: demuth i. Proc Natl Acad Sci U S A. 2005 Feb 1;102(5):1584-9. doi: 10.1073/pnas.0409191102. Epub 2005 Jan 24. Proc Natl Acad Sci U S A. 2005. PMID: 15668383 Free PMC article.
197 results