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Comparison of different IRT-PAP protocols to screen newborns for cystic fibrosis in three central European populations.
Sommerburg O, Krulisova V, Hammermann J, Lindner M, Stahl M, Muckenthaler M, Kohlmueller D, Happich M, Kulozik AE, Votava F, Balascakova M, Skalicka V, Stopsack M, Gahr M, Macek M Jr, Mall MA, Hoffmann GF. Sommerburg O, et al. Among authors: gahr m. J Cyst Fibros. 2014 Jan;13(1):15-23. doi: 10.1016/j.jcf.2013.06.003. Epub 2013 Jul 25. J Cyst Fibros. 2014. PMID: 23891278 Free article.
Periodic fever, mild arthralgias, and reversible moderate and severe organ inflammation associated with the V198M mutation in the CIAS1 gene in three German patients--expanding phenotype of CIAS1 related autoinflammatory syndrome.
Pörksen G, Lohse P, Rösen-Wolff A, Heyden S, Förster T, Wendisch J, Heubner G, Bernuth H, Sallmann S, Gahr M, Roesler J. Pörksen G, et al. Among authors: gahr m. Eur J Haematol. 2004 Aug;73(2):123-7. doi: 10.1111/j.1600-0609.2004.00270.x. Eur J Haematol. 2004. PMID: 15245511
Haploinsufficiency, rather than the effect of an excessive production of soluble CD95 (CD95{Delta}TM), is the basis for ALPS Ia in a family with duplicated 3' splice site AG in CD95 intron 5 on one allele.
Roesler J, Izquierdo JM, Ryser M, Rösen-Wolff A, Gahr M, Valcarcel J, Lenardo MJ, Zheng L. Roesler J, et al. Among authors: gahr m. Blood. 2005 Sep 1;106(5):1652-9. doi: 10.1182/blood-2004-08-3104. Epub 2005 May 3. Blood. 2005. PMID: 15870181 Free article.
392 results