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Isolation of a cDNA representing the Fanconi anemia complementation group E gene.
de Winter JP, Léveillé F, van Berkel CG, Rooimans MA, van Der Weel L, Steltenpool J, Demuth I, Morgan NV, Alon N, Bosnoyan-Collins L, Lightfoot J, Leegwater PA, Waisfisz Q, Komatsu K, Arwert F, Pronk JC, Mathew CG, Digweed M, Buchwald M, Joenje H. de Winter JP, et al. Among authors: demuth i. Am J Hum Genet. 2000 Nov;67(5):1306-8. doi: 10.1016/S0002-9297(07)62959-0. Epub 2000 Sep 19. Am J Hum Genet. 2000. PMID: 11001585 Free PMC article.
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
Evaluation of the role of STAP1 in Familial Hypercholesterolemia.
Danyel M, Ott CE, Grenkowitz T, Salewsky B, Hicks AA, Fuchsberger C, Steinhagen-Thiessen E, Bobbert T, Kassner U, Demuth I. Danyel M, et al. Among authors: demuth i. Sci Rep. 2019 Aug 19;9(1):11995. doi: 10.1038/s41598-019-48402-y. Sci Rep. 2019. PMID: 31427613 Free PMC article.
The Fanconi anaemia group G gene FANCG is identical with XRCC9.
de Winter JP, Waisfisz Q, Rooimans MA, van Berkel CG, Bosnoyan-Collins L, Alon N, Carreau M, Bender O, Demuth I, Schindler D, Pronk JC, Arwert F, Hoehn H, Digweed M, Buchwald M, Joenje H. de Winter JP, et al. Among authors: demuth i. Nat Genet. 1998 Nov;20(3):281-3. doi: 10.1038/3093. Nat Genet. 1998. PMID: 9806548
197 results