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Phenotypic and molecular insights into CASK-related disorders in males.
Moog U, Bierhals T, Brand K, Bautsch J, Biskup S, Brune T, Denecke J, de Die-Smulders CE, Evers C, Hempel M, Henneke M, Yntema H, Menten B, Pietz J, Pfundt R, Schmidtke J, Steinemann D, Stumpel CT, Van Maldergem L, Kutsche K. Moog U, et al. Among authors: schmidtke j. Orphanet J Rare Dis. 2015 Apr 12;10:44. doi: 10.1186/s13023-015-0256-3. Orphanet J Rare Dis. 2015. PMID: 25886057 Free PMC article.
Novel CHD7 mutations contributing to the mutation spectrum in patients with CHARGE syndrome.
Wessels K, Bohnhorst B, Luhmer I, Morlot S, Bohring A, Jonasson J, Epplen JT, Gadzicki D, Glaser S, Göhring G, Mälzer M, Hein A, Arslan-Kirchner M, Stuhrmann M, Schmidtke J, Pabst B. Wessels K, et al. Among authors: schmidtke j. Eur J Med Genet. 2010 Sep-Oct;53(5):280-5. doi: 10.1016/j.ejmg.2010.07.002. Epub 2010 Jul 30. Eur J Med Genet. 2010. PMID: 20624498
The main pulmonary artery in adults: a controlled multicenter study with assessment of echocardiographic reference values, and the frequency of dilatation and aneurysm in Marfan syndrome.
Sheikhzadeh S, De Backer J, Gorgan NR, Rybczynski M, Hillebrand M, Schüler H, Bernhardt AM, Koschyk D, Bannas P, Keyser B, Mortensen K, Radke RM, Mir TS, Kölbel T, Robinson PN, Schmidtke J, Berger J, Blankenberg S, von Kodolitsch Y. Sheikhzadeh S, et al. Among authors: schmidtke j. Orphanet J Rare Dis. 2014 Dec 10;9:203. doi: 10.1186/s13023-014-0203-8. Orphanet J Rare Dis. 2014. PMID: 25491897 Free PMC article.
Familial thrombocytosis caused by the novel germ-line mutation p.Pro106Leu in the MPL gene.
El-Harith el-HA, Roesl C, Ballmaier M, Germeshausen M, Frye-Boukhriss H, von Neuhoff N, Becker C, Nürnberg G, Nürnberg P, Ahmed MA, Hübener J, Schmidtke J, Welte K, Stuhrmann M. El-Harith el-HA, et al. Among authors: schmidtke j. Br J Haematol. 2009 Jan;144(2):185-94. doi: 10.1111/j.1365-2141.2008.07430.x. Epub 2008 Nov 19. Br J Haematol. 2009. PMID: 19036112 Free article.
398 results