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Alport syndrome with diffuse leiomyomatosis.
Anker MC, Arnemann J, Neumann K, Ahrens P, Schmidt H, König R. Anker MC, et al. Among authors: konig r. Am J Med Genet A. 2003 Jun 15;119A(3):381-5. doi: 10.1002/ajmg.a.20019. Am J Med Genet A. 2003. PMID: 12784310
Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation.
Teber OA, Gillessen-Kaesbach G, Fischer S, Böhringer S, Albrecht B, Albert A, Arslan-Kirchner M, Haan E, Hagedorn-Greiwe M, Hammans C, Henn W, Hinkel GK, König R, Kunstmann E, Kunze J, Neumann LM, Prott EC, Rauch A, Rott HD, Seidel H, Spranger S, Sprengel M, Zoll B, Lohmann DR, Wieczorek D. Teber OA, et al. Among authors: konig r. Eur J Hum Genet. 2004 Nov;12(11):879-90. doi: 10.1038/sj.ejhg.5201260. Eur J Hum Genet. 2004. PMID: 15340364
SOX5 is involved in balanced MITF regulation in human melanoma cells.
Kordaß T, Weber CE, Oswald M, Ast V, Bernhardt M, Novak D, Utikal J, Eichmüller SB, König R. Kordaß T, et al. Among authors: konig r. BMC Med Genomics. 2016 Feb 29;9:10. doi: 10.1186/s12920-016-0170-0. BMC Med Genomics. 2016. PMID: 26927636 Free PMC article.
549 results