Search Results - Olaf Hiort
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The differential role of androgens in early human sex development by Olaf Hiort
Published 2013Revisão -
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A Novel Ultrapressure Liquid Chromatography Tandem Mass Spectrometry Method for the Simultaneous Determination of Androstenedione, Testosterone, and Dihydrotestosterone in Pediatri... by Alexandra Kulle, Felix G. Riepe, D. Melchior, Olaf Hiort, Paul‐Martin Holterhus
Published 2010Artigo -
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Functional characterization of GNAS mutations found in patients with pseudohypoparathyroidism type Ic defines a new subgroup of pseudohypoparathyroidism affecting selectively Gsα-r... by Susanne Thiele, Luisa De Sanctis, Ralf Werner, Joachim Grötzinger, Cumhur Aydın, Harald Jüppner, Murat Bastepe, Olaf Hiort
Published 2011Artigo -
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Array-CGH analysis in patients with syndromic and non-syndromic XY gonadal dysgenesis: evaluation of array CGH as diagnostic tool and search for new candidate loci by Susanne Ledig, Olaf Hiort, Gerd Scherer, Michael J. Hoffmann, G. Wolff, Susanne Morlot, A. Kuechler, Peter Wieacker
Published 2010Artigo -
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A positive genotype–phenotype correlation in a large cohort of patients with Pseudohypoparathyroidism Type Ia and Pseudo‐pseudohypoparathyroidism and 33 newly identified mutations... by Susanne Thiele, Ralf Werner, Joachim Grötzinger, Bettina Brix, Pia Staedt, Dagmar Struve, Benedikt Reiz, Farida Jennane, Olaf Hiort
Published 2014Artigo -
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Mosaicism due to a Somatic Mutation of the Androgen Receptor Gene Determines Phenotype in Androgen Insensitivity Syndrome1 by Paul‐Martin Holterhus, Hennie T. Brüggenwirth, Olaf Hiort, A. Kleinkauf-Houcken, K. Kruse, Gernot H.G. Sinnecker, Albert O. Brinkmann
Published 1997Artigo -
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46,XY Gonadal Dysgenesis due to a Homozygous Mutation in Desert Hedgehog (<i>DHH</i>) Identified by Exome Sequencing by Ralf Werner, Hartmut Merz, Wiebke Birnbaum, Louise Marshall, Tatjana Schröder, Benedikt Reiz, Jennifer M. Kavran, Tobias Bäumer, Philipp Capetian, Olaf Hiort
Published 2015Artigo -
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The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46,XY males without adrenal insuffici... by Birgit Köhler, Lin Lin, Inas Mazen, Cigdem Cetindag, Heike Biebermann, Ilker Akkurt, Rainer Rossi, Olaf Hiort, Annette Grüters, John C. Achermann
Published 2009Artigo -
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Homozygous Disruption of P450 Side-Chain Cleavage (CYP11A1) Is Associated with Prematurity, Complete 46,XY Sex Reversal, and Severe Adrenal Failure by Olaf Hiort, Paul‐Martin Holterhus, Ralf Werner, Christine Marschke, U. Hoppe, Carl‐Joachim Partsch, Felix G. Riepe, John C. Achermann, Dagmar Struve
Published 2005Artigo
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