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Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls.
Soemedi R, Topf A, Wilson IJ, Darlay R, Rahman T, Glen E, Hall D, Huang N, Bentham J, Bhattacharya S, Cosgrove C, Brook JD, Granados-Riveron J, Setchfield K, Bu'lock F, Thornborough C, Devriendt K, Breckpot J, Hofbeck M, Lathrop M, Rauch A, Blue GM, Winlaw DS, Hurles M, Santibanez-Koref M, Cordell HJ, Goodship JA, Keavney BD. Soemedi R, et al. Among authors: rauch a. Hum Mol Genet. 2012 Apr 1;21(7):1513-20. doi: 10.1093/hmg/ddr589. Epub 2011 Dec 22. Hum Mol Genet. 2012. PMID: 22199024 Free PMC article.
Monozygotic twins concordant for Cayler syndrome.
Rauch A, Hofbeck M, Bähring S, Leipold G, Trautmann U, Singer H, Pfeiffer RA. Rauch A, et al. Am J Med Genet. 1998 Jan 6;75(1):113-7. Am J Med Genet. 1998. PMID: 9450869
A novel 22q11.2 microdeletion in DiGeorge syndrome.
Rauch A, Pfeiffer RA, Leipold G, Singer H, Tigges M, Hofbeck M. Rauch A, et al. Am J Hum Genet. 1999 Feb;64(2):659-66. doi: 10.1086/302235. Am J Hum Genet. 1999. PMID: 9973528 Free PMC article. No abstract available.
[Rate of prenatal detection of congenital right heart defects].
Hofbeck M, Rauch R, Beinder E, Buheitel G, Leipold G, Rauch A, Singer H. Hofbeck M, et al. Among authors: rauch r, rauch a. Z Geburtshilfe Neonatol. 1999 Sep-Oct;203(5):207-12. Z Geburtshilfe Neonatol. 1999. PMID: 10596414 German.
Hypoparathyroidism in conotruncal heart defects.
Koch A, Hofbeck M, Buheitel G, Dörr HG, Rauch A, Rauch R, Singer H. Koch A, et al. Among authors: rauch r, rauch a. Eur J Pediatr. 2002 Apr;161(4):208-11. doi: 10.1007/s004310100818. Eur J Pediatr. 2002. PMID: 12014387
1,111 results