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Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy.
Møller RS, Weber YG, Klitten LL, Trucks H, Muhle H, Kunz WS, Mefford HC, Franke A, Kautza M, Wolf P, Dennig D, Schreiber S, Rückert IM, Wichmann HE, Ernst JP, Schurmann C, Grabe HJ, Tommerup N, Stephani U, Lerche H, Hjalgrim H, Helbig I, Sander T; EPICURE Consortium. Møller RS, et al. Among authors: kautza m. Epilepsia. 2013 Feb;54(2):256-64. doi: 10.1111/epi.12078. Epub 2013 Jan 7. Epilepsia. 2013. PMID: 23294455 Free article.
Conflicting results of prenatal FISH with different probes for Down's Syndrome critical regions associated with mosaicism for a de novo del(21)(q22) characterised by molecular karyotyping: Case report.
Eckmann-Scholz C, Gesk S, Nagel I, Haake A, Bens S, Heidemann S, Kautza M, Timke C, Siebert R, Caliebe A. Eckmann-Scholz C, et al. Among authors: kautza m. Mol Cytogenet. 2010 Sep 5;3:16. doi: 10.1186/1755-8166-3-16. Mol Cytogenet. 2010. PMID: 20815924 Free PMC article.
Familial Williams-Beuren syndrome showing varying clinical expression.
Pankau R, Siebert R, Kautza M, Schneppenheim R, Gosch A, Wessel A, Partsch CJ. Pankau R, et al. Among authors: kautza m. Am J Med Genet. 2001 Feb 1;98(4):324-9. doi: 10.1002/1096-8628(20010201)98:4<324::aid-ajmg1103>3.0.co;2-5. Am J Med Genet. 2001. PMID: 11170076 Review.
Analysis of SYCP3 encoding synaptonemal complex protein 3 in human aneuploidies.
Roos A, von Kaisenberg CS, Eggermann T, Schwanitz G, Löffler C, Weise A, Mrasek K, Junge A, Caliebe A, Belitz B, Kautza M, Schüler H, Zerres K, Heidemann S. Roos A, et al. Among authors: kautza m. Arch Gynecol Obstet. 2013 Nov;288(5):1153-8. doi: 10.1007/s00404-013-2861-5. Epub 2013 May 16. Arch Gynecol Obstet. 2013. PMID: 23677416
11 results