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Disturbed Wnt Signalling due to a Mutation in CCDC88C Causes an Autosomal Recessive Non-Syndromic Hydrocephalus with Medial Diverticulum.
Ekici AB, Hilfinger D, Jatzwauk M, Thiel CT, Wenzel D, Lorenz I, Boltshauser E, Goecke TW, Staatz G, Morris-Rosendahl DJ, Sticht H, Hehr U, Reis A, Rauch A. Ekici AB, et al. Among authors: reis a. Mol Syndromol. 2010 Sep;1(3):99-112. doi: 10.1159/000319859. Epub 2010 Sep 14. Mol Syndromol. 2010. PMID: 21031079 Free PMC article.
A novel 5q35.3 subtelomeric deletion syndrome.
Rauch A, Beese M, Mayatepek E, Dörr HG, Wenzel D, Reis A, Trautmann U. Rauch A, et al. Among authors: reis a. Am J Med Genet A. 2003 Aug 15;121A(1):1-8. doi: 10.1002/ajmg.a.20173. Am J Med Genet A. 2003. PMID: 12900893
Molecular karyotyping using an SNP array for genomewide genotyping.
Rauch A, Rüschendorf F, Huang J, Trautmann U, Becker C, Thiel C, Jones KW, Reis A, Nürnberg P. Rauch A, et al. Among authors: reis a. J Med Genet. 2004 Dec;41(12):916-22. doi: 10.1136/jmg.2004.022855. J Med Genet. 2004. PMID: 15591277 Free PMC article.
Characterisation of psoriasis susceptibility locus 6 (PSORS6) in patients with early onset psoriasis and evidence for interaction with PSORS1.
Hüffmeier U, Lascorz J, Becker T, Schürmeier-Horst F, Magener A, Ekici AB, Endele S, Thiel CT, Thoma-Uszynski S, Mössner R, Reich K, Kurrat W, Wienker TF, Traupe H, Reis A. Hüffmeier U, et al. Among authors: reis a. J Med Genet. 2009 Nov;46(11):736-44. doi: 10.1136/jmg.2008.065029. Epub 2009 Jun 11. J Med Genet. 2009. PMID: 19525279 Free PMC article.
Genome-wide association study with DNA pooling identifies variants at CNTNAP2 associated with pseudoexfoliation syndrome.
Krumbiegel M, Pasutto F, Schlötzer-Schrehardt U, Uebe S, Zenkel M, Mardin CY, Weisschuh N, Paoli D, Gramer E, Becker C, Ekici AB, Weber BH, Nürnberg P, Kruse FE, Reis A. Krumbiegel M, et al. Among authors: reis a. Eur J Hum Genet. 2011 Feb;19(2):186-93. doi: 10.1038/ejhg.2010.144. Epub 2010 Sep 1. Eur J Hum Genet. 2011. PMID: 20808326 Free PMC article.
3,271 results