檢索結果 - Olaf Hiort

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  1. 1
    The differential role of androgens in early human sex development

    The differential role of androgens in early human sex development 由 Olaf Hiort

    出版 2013
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    Revisão
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  2. 2
    Gonadectomy in Complete Androgen Insensitivity Syndrome: Why and When?

    Gonadectomy in Complete Androgen Insensitivity Syndrome: Why and When? 由 Ulla Döhnert, Lutz Wünsch, Olaf Hiort

    出版 2017
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  3. 3
    Partial deletion of DMRT1 causes 46,XY ovotesticular disorder of sexual development

    Partial deletion of DMRT1 causes 46,XY ovotesticular disorder of sexual development 由 Susanne Ledig, Olaf Hiort, Lutz Wünsch, Peter Wieacker

    出版 2012
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  4. 4
    Utilization of Health Care Services and Satisfaction with Care in Adults Affected by Disorders of Sex Development (DSD)

    Utilization of Health Care Services and Satisfaction with Care in Adults Affected by Disorders of Sex Development (DSD) 由 Ute Thyen, Anke Lux, Martina Jürgensen, Olaf Hiort, Birgit Köhler

    出版 2014
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  5. 5
    Characteristic Features of Reproductive Hormone Profiles in Late Adolescent and Adult Females with Complete Androgen Insensitivity Syndrome

    Characteristic Features of Reproductive Hormone Profiles in Late Adolescent and Adult Females with Complete Androgen Insensitivity Syndrome 由 Ulla Doehnert, Silvano Bertelloni, Ralf Werner, Eleonora Dati, Olaf Hiort

    出版 2015
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  6. 6
    Disorders of Sex Development and Hypogonadism: Genetics, Mechanism, and Therapies

    Disorders of Sex Development and Hypogonadism: Genetics, Mechanism, and Therapies 由 Gil Guerra‐Júnior, Ana Cláudia Latronico, Olaf Hiort, Rodolfo A. Rey

    出版 2012
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  7. 7
    Analysis of the GNAS1 Gene in Albright’s Hereditary Osteodystrophy

    Analysis of the GNAS1 Gene in Albright’s Hereditary Osteodystrophy 由 Wiebke Ahrens, Olaf Hiort, Pia Staedt, T. Kirschner, Christine Marschke, K. Kruse

    出版 2001
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  8. 8
    A Novel Ultrapressure Liquid Chromatography Tandem Mass Spectrometry Method for the Simultaneous Determination of Androstenedione, Testosterone, and Dihydrotestosterone in Pediatric Blood Samples: Age- and Sex-Specific Reference Data

    A Novel Ultrapressure Liquid Chromatography Tandem Mass Spectrometry Method for the Simultaneous Determination of Androstenedione, Testosterone, and Dihydrotestosterone in Pediatri... 由 Alexandra Kulle, Felix G. Riepe, D. Melchior, Olaf Hiort, Paul‐Martin Holterhus

    出版 2010
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  9. 9
    Satisfaction with health care among people with differences of sex development (DSD) in Germany

    Satisfaction with health care among people with differences of sex development (DSD) in Germany 由 Maike Schnoor, A Heidenreich, Martina Jürgensen, Ulla Döhnert, Olaf Hiort, Alexander Katalinic

    出版 2025
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  10. 10
    Basal Inhibin B and the Testosterone Response to Human Chorionic Gonadotropin Correlate in Prepubertal Boys<sup>1</sup>

    Basal Inhibin B and the Testosterone Response to Human Chorionic Gonadotropin Correlate in Prepubertal Boys<sup>1</sup> 由 K. Kubini, M. Zachmann, Norbert Albers, Olaf Hiort, Markus Bettendorf, Joachim Wölfle, F. Bidlingmaier, Dietrich Klingmüller

    出版 2000
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  11. 11
    Functional characterization of GNAS mutations found in patients with pseudohypoparathyroidism type Ic defines a new subgroup of pseudohypoparathyroidism affecting selectively Gsα-receptor interaction

    Functional characterization of GNAS mutations found in patients with pseudohypoparathyroidism type Ic defines a new subgroup of pseudohypoparathyroidism affecting selectively Gsα-r... 由 Susanne Thiele, Luisa De Sanctis, Ralf Werner, Joachim Grötzinger, Cumhur Aydın, Harald Jüppner, Murat Bastepe, Olaf Hiort

    出版 2011
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  12. 12
    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

    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 由 Susanne Ledig, Olaf Hiort, Gerd Scherer, Michael J. Hoffmann, G. Wolff, Susanne Morlot, A. Kuechler, Peter Wieacker

    出版 2010
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  13. 13
    Response to the Council of Europe Human Rights Commissioner's Issue Paper on Human Rights and Intersex People

    Response to the Council of Europe Human Rights Commissioner's Issue Paper on Human Rights and Intersex People 由 Martine Cools, Margaret Simmonds, Sue Elford, Joke Gorter, S. Faisal Ahmed, Franco D’Alberton, Alexander Springer, Olaf Hiort

    出版 2016
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  14. 14
    A positive genotype–phenotype correlation in a large cohort of patients with Pseudohypoparathyroidism Type Ia and Pseudo‐pseudohypoparathyroidism and 33 newly identified mutations in the <i><scp>GNAS</scp></i> gene

    A positive genotype–phenotype correlation in a large cohort of patients with Pseudohypoparathyroidism Type Ia and Pseudo‐pseudohypoparathyroidism and 33 newly identified mutations... 由 Susanne Thiele, Ralf Werner, Joachim Grötzinger, Bettina Brix, Pia Staedt, Dagmar Struve, Benedikt Reiz, Farida Jennane, Olaf Hiort

    出版 2014
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  15. 15
    Mosaicism due to a Somatic Mutation of the Androgen Receptor Gene Determines Phenotype in Androgen Insensitivity Syndrome1

    Mosaicism due to a Somatic Mutation of the Androgen Receptor Gene Determines Phenotype in Androgen Insensitivity Syndrome1 由 Paul‐Martin Holterhus, Hennie T. Brüggenwirth, Olaf Hiort, A. Kleinkauf-Houcken, K. Kruse, Gernot H.G. Sinnecker, Albert O. Brinkmann

    出版 1997
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  16. 16
    Analysis ofRET protooncogene point mutations distinguishes heritable from nonheritable medullary thyroid carcinomas

    Analysis ofRET protooncogene point mutations distinguishes heritable from nonheritable medullary thyroid carcinomas 由 Eva K. Kunz, Xavier Matías‐Guiu, Olaf Hiort, Gudrun Christiansen, Anna Colomer, Jürgen Roth, Philipp U. Heitz, Paul Komminoth

    出版 1995
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  17. 17
    46,XY Gonadal Dysgenesis due to a Homozygous Mutation in Desert Hedgehog (<i>DHH</i>) Identified by Exome Sequencing

    46,XY Gonadal Dysgenesis due to a Homozygous Mutation in Desert Hedgehog (<i>DHH</i>) Identified by Exome Sequencing 由 Ralf Werner, Hartmut Merz, Wiebke Birnbaum, Louise Marshall, Tatjana Schröder, Benedikt Reiz, Jennifer M. Kavran, Tobias Bäumer, Philipp Capetian, Olaf Hiort

    出版 2015
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  18. 18
    Analysis of the Wilms' Tumor Suppressor Gene (WT1) in Patients 46,XY Disorders of Sex Development

    Analysis of the Wilms' Tumor Suppressor Gene (WT1) in Patients 46,XY Disorders of Sex Development 由 Birgit Köhler, Heike Biebermann, V. Friedsam, Jutta Gellermann, Rolf F. Maier, Martina Pohl, Peter Wieacker, Olaf Hiort, Annette Grüters, Heiko Krude

    出版 2011
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  19. 19
    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 insufficiency

    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... 由 Birgit Köhler, Lin Lin, Inas Mazen, Cigdem Cetindag, Heike Biebermann, Ilker Akkurt, Rainer Rossi, Olaf Hiort, Annette Grüters, John C. Achermann

    出版 2009
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  20. 20
    Homozygous Disruption of P450 Side-Chain Cleavage (CYP11A1) Is Associated with Prematurity, Complete 46,XY Sex Reversal, and Severe Adrenal Failure

    Homozygous Disruption of P450 Side-Chain Cleavage (CYP11A1) Is Associated with Prematurity, Complete 46,XY Sex Reversal, and Severe Adrenal Failure 由 Olaf Hiort, Paul‐Martin Holterhus, Ralf Werner, Christine Marschke, U. Hoppe, Carl‐Joachim Partsch, Felix G. Riepe, John C. Achermann, Dagmar Struve

    出版 2005
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