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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: dorr hg. Eur J Pediatr. 2002 Apr;161(4):208-11. doi: 10.1007/s004310100818. Eur J Pediatr. 2002. PMID: 12014387
Klinefelter syndrome and mediastinal germ cell tumors.
Völkl TM, Langer T, Aigner T, Greess H, Beck JD, Rauch AM, Dörr HG. Völkl TM, et al. Among authors: dorr hg. Am J Med Genet A. 2006 Mar 1;140(5):471-81. doi: 10.1002/ajmg.a.31103. Am J Med Genet A. 2006. PMID: 16470792
Chromosome 5q subtelomeric deletion syndrome.
Rauch A, Dörr HG. Rauch A, et al. Among authors: dorr hg. Am J Med Genet C Semin Med Genet. 2007 Nov 15;145C(4):372-6. doi: 10.1002/ajmg.c.30151. Am J Med Genet C Semin Med Genet. 2007. PMID: 17910075 Review.
Mutations in the pericentrin (PCNT) gene cause primordial dwarfism.
Rauch A, Thiel CT, Schindler D, Wick U, Crow YJ, Ekici AB, van Essen AJ, Goecke TO, Al-Gazali L, Chrzanowska KH, Zweier C, Brunner HG, Becker K, Curry CJ, Dallapiccola B, Devriendt K, Dörfler A, Kinning E, Megarbane A, Meinecke P, Semple RK, Spranger S, Toutain A, Trembath RC, Voss E, Wilson L, Hennekam R, de Zegher F, Dörr HG, Reis A. Rauch A, et al. Among authors: dorr hg. Science. 2008 Feb 8;319(5864):816-9. doi: 10.1126/science.1151174. Epub 2008 Jan 3. Science. 2008. PMID: 18174396
A de novo 7.6Mb tandem duplication of 14q32.2-qter associated with primordial short stature with neurosecretory growth hormone dysfunction, distinct facial anomalies and mild developmental delay.
Thiel CT, Dörr HG, Trautmann U, Hoyer J, Hofmann K, Kraus C, Ekici AB, Reis A, Rauch A. Thiel CT, et al. Among authors: dorr hg. Eur J Med Genet. 2008 Jul-Aug;51(4):362-7. doi: 10.1016/j.ejmg.2008.03.001. Epub 2008 Mar 20. Eur J Med Genet. 2008. PMID: 18434272
DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects.
Kessler K, Wunderlich I, Uebe S, Falk NS, Gießl A, Brandstätter JH, Popp B, Klinger P, Ekici AB, Sticht H, Dörr HG, Reis A, Roepman R, Seemanová E, Thiel CT. Kessler K, et al. Among authors: dorr hg. Sci Rep. 2015 Jul 1;5:11649. doi: 10.1038/srep11649. Sci Rep. 2015. PMID: 26130459 Free PMC article.
227 results