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116 results

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Page 1
A novel 8 Mb interstitial deletion of chromosome 8p12-p21.2.
Klopocki E, Fiebig B, Robinson P, Tönnies H, Erdogan F, Ropers HH, Mundlos S, Ullmann R. Klopocki E, et al. Am J Med Genet A. 2006 Apr 15;140(8):873-7. doi: 10.1002/ajmg.a.31163. Am J Med Genet A. 2006. PMID: 16528753
A complex phenotype with cystic renal disease.
Müller D, Klopocki E, Neumann LM, Mundlos S, Taupitz M, Schulze I, Ropers HH, Querfeld U, Ullmann R. Müller D, et al. Among authors: klopocki e. Kidney Int. 2006 Nov;70(9):1656-60. doi: 10.1038/sj.ki.5001746. Epub 2006 Aug 16. Kidney Int. 2006. PMID: 16912708 Free article. No abstract available.
Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome.
Klopocki E, Schulze H, Strauss G, Ott CE, Hall J, Trotier F, Fleischhauer S, Greenhalgh L, Newbury-Ecob RA, Neumann LM, Habenicht R, König R, Seemanova E, Megarbane A, Ropers HH, Ullmann R, Horn D, Mundlos S. Klopocki E, et al. Am J Hum Genet. 2007 Feb;80(2):232-40. doi: 10.1086/510919. Epub 2006 Dec 21. Am J Hum Genet. 2007. PMID: 17236129 Free PMC article.
Impact of array comparative genomic hybridization-derived information on genetic counseling demonstrated by prenatal diagnosis of the TAR (thrombocytopenia-absent-radius) syndrome-associated microdeletion 1q21.1.
Uhrig S, Schlembach D, Waldispuehl-Geigl J, Schaffer W, Geigl J, Klopocki E, Mundlos S, Speicher MR. Uhrig S, et al. Among authors: klopocki e. Am J Hum Genet. 2007 Oct;81(4):866-8. doi: 10.1086/521338. Am J Hum Genet. 2007. PMID: 17847015 Free PMC article. No abstract available.
116 results