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Genotype/phenotype correlations in 538 congenital adrenal hyperplasia patients from Germany and Austria: discordances in milder genotypes and in screened versus prescreening patients.
Riedl S, Röhl FW, Bonfig W, Brämswig J, Richter-Unruh A, Fricke-Otto S, Bettendorf M, Riepe F, Kriegshäuser G, Schönau E, Even G, Hauffa B, Dörr HG, Holl RW, Mohnike K; AQUAPE CAH Study Group. Riedl S, et al. Among authors: kriegshauser g. Endocr Connect. 2019 Feb 1;8(2):86-94. doi: 10.1530/EC-18-0281. Endocr Connect. 2019. PMID: 30620712 Free PMC article.
Reverse-hybridization assay for rapid detection of common CYP21A2 mutations in dried blood spots from newborns with elevated 17-OH progesterone.
Németh S, Riedl S, Kriegshäuser G, Baumgartner-Parzer S, Concolino P, Neocleous V, Phylactou LA, Borucka-Mankiewicz M, Onay H, Tukun A, Oberkanins C. Németh S, et al. Among authors: kriegshauser g. Clin Chim Acta. 2012 Dec 24;414:211-4. doi: 10.1016/j.cca.2012.09.013. Epub 2012 Sep 14. Clin Chim Acta. 2012. PMID: 22985688
65 results