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  1. Janzen, Nils [Author]; Riepe, Felix Günther [Author]; Peter, Michael [Author]; Sander, Stefanie [Author]; Steuerwald, Ulrike [Author]; Korsch, Eckhard [Author]; Krull, Friedrich [Author]; Müller, Hermann L. [Author]; Heger, Sabine [Author]; Brack, Christoph [Author]; Sander, Johannes [Author]

    Neonatal screening : identification of children with 11β-hydroxylase deficiency by second-tier testing

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    Basel: S. Karger, 13 April 2012

    Published in: Hormone research in paediatrics ; 77, (2012), 3

  2. Barbaro, Michela [Author]; Bens, Susanne [Author]; Haake, Andrea [Author]; Peter, Michael [Author]; Brämswig, Jürgen [Author]; Holterhus, Paul-Martin [Author]; Lopez-Siguero, Juan Pedro [Author]; Menken, Udo [Author]; Mix, Monika [Author]; Sippell, Wolfgang [Author]; Wedell, Anna [Author]; Riepe, Felix Günther [Author]

    Multiplex ligation-dependent probe amplification analysis of the NR0B1(DAX1) locus enables explanation of phenotypic differences in patients with X-linked congenital adrenal hypoplasia

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    Basel: S. Karger, 23 March 2012

    Published in: Hormone research in paediatrics ; 77, (2012), 2

  3. Petri, Christina [Author]; Wudy, Stefan A. [Author]; Riepe, Felix Günther [Author]; Holterhus, Paul-Martin [Author]; Siegel, Jens [Author]; Hartmann, Michaela [Author]; Kulle, Alexandra E. [Author]; Welzel, Maik [Author]; Grötzinger, Joachim [Author]; Schild, Ralf L. [Author]; Heger, Sabine [Author]

    17α-hydroxylase deficiency diagnosed in early infancy caused by a novel mutation of the CYP17A1 Gene17α-Hydroxylase Deficiency Diagnosed in Early Infancy Caused by a Novel Mutation of the CYP17A1Gene

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    Basel: S. Karger, 04 April 2014

    Published in: Hormone research in paediatrics ; 81, (2014), 5

  4. Bonfig, Walter; Roehl, Friedrich-Wilhelm; Riedl, Stefan; Dörr, Helmut Günther; Bettendorf, Markus; Brämswig, Jürgen; Schönau, Eckhard; Riepe, Felix; Hauffa, Berthold; Holl, Reinhard W.; Mohnike, Klaus

    Blood Pressure in a Large Cohort of Children and Adolescents With Classic Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase Deficiency

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    Oxford University Press (OUP), 2016

    Published in: American Journal of Hypertension

  5. Krone, Nils; Riepe, Felix Günther; Dörr, Helmuth-Günther; Morlot, Michel; Rudorff, Karl-Heinz; Drop, Stenvert L.S.; Weigel, Johannes; Pura, Mikulas; Kreze, Alexander; Boronat, Mauro; de Luca, Filippo; Tiulpakov, Anatoly; Partsch, Carl-Joachim; Peter, Michael; Sippell, Wolfgang G.

    Thirteen novel mutations in theNR0B1(DAX1) gene as cause of adrenal hypoplasia congenita : MUTATIONS IN BRIEF : MUTATIONS IN BRIEF

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    Hindawi Limited, 2005

    Published in: Human Mutation

  6. Stefan Riedl; Friedrich-Wilhelm Röhl; Walter Bonfig; Jürgen Brämswig; Annette Richter-Unruh; Susanne Fricke-Otto; Markus Bettendorf; Felix Riepe; Gernot Kriegshäuser; Eckhard Schönau; Gertrud Even; Berthold Hauffa; Helmuth-Günther Dörr; Reinhard W Holl; Klaus Mohnike

    Genotype/phenotype correlations in 538 congenital adrenal hyperplasia patients from Germany and Austria: discordances in milder genotypes and in screened versus prescreening patients

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    2019

    Published in: Endocrine Connections

  7. Riedl, Stefan; Röhl, Friedrich-Wilhelm; Bonfig, Walter; Brämswig, Jürgen; Richter-Unruh, Annette; Fricke-Otto, Susanne; Bettendorf, Markus; Riepe, Felix; Kriegshäuser, Gernot; Schönau, Eckhard; Even, Gertrud; Hauffa, Berthold; Dörr, Helmuth-Günther; Holl, Reinhard W; Mohnike, Klaus; _, _

    Genotype/phenotype correlations in 538 congenital adrenal hyperplasia patients from Germany and Austria: discordances in milder genotypes and in screened versus prescreening patients

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    Bioscientifica, 2019

    Published in: Endocrine Connections