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Study of 30 patients with unexplained developmental delay and dysmorphic features or congenital abnormalities using conventional cytogenetics and multiplex FISH telomere (M-TEL) integrity assay.
Popp S, Schulze B, Granzow M, Keller M, Holtgreve-Grez H, Schoell B, Brough M, Hager HD, Tariverdian G, Brown J, Kearney L, Jauch A. Popp S, et al. Among authors: jauch a. Hum Genet. 2002 Jul;111(1):31-9. doi: 10.1007/s00439-002-0739-x. Epub 2002 Jun 13. Hum Genet. 2002. PMID: 12136233
Telomere dysfunction as a cause of genomic instability in Werner syndrome.
Crabbe L, Jauch A, Naeger CM, Holtgreve-Grez H, Karlseder J. Crabbe L, et al. Among authors: jauch a. Proc Natl Acad Sci U S A. 2007 Feb 13;104(7):2205-10. doi: 10.1073/pnas.0609410104. Epub 2007 Feb 6. Proc Natl Acad Sci U S A. 2007. PMID: 17284601 Free PMC article.
332 results