Hasil Pencarian - Olaf Hiort

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  1. 1
    Disorders of Sex Development and Hypogonadism: Genetics, Mechanism, and Therapies

    Disorders of Sex Development and Hypogonadism: Genetics, Mechanism, and Therapies oleh Gil Guerra-Junior, Ana Claudia Latronico, Olaf Hiort, Rodolfo Rey

    Diterbitkan 2012-01-01
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  2. 2
    Endo-ERN in its fifth year: a pinch of care, science, curiosity and new horizons

    Endo-ERN in its fifth year: a pinch of care, science, curiosity and new horizons oleh Violeta Iotova, Jerome Bertherat, George Mastorakos, Olaf Hiort, Alberto M Pereira

    Diterbitkan 2022-03-01
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  3. 3
    An overview of the outreach of the 2019–2021 Endo-ERN knowledge generation webinars

    An overview of the outreach of the 2019–2021 Endo-ERN knowledge generation webinars oleh Violeta Iotova, Camilla Schalin-Jäntti, Charlotte Van Beuzekom, Petra Bruegmann, Manuela Broesamle, Olaf Hiort, Alberto M Pereira

    Diterbitkan 2023-08-01
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  4. 4
    Educational and knowledge gaps within the European reference network on rare endocrine conditions

    Educational and knowledge gaps within the European reference network on rare endocrine conditions oleh Violeta Iotova, Camilla Schalin-Jäntti, Petra Bruegmann, Manuela Broesamle, Natasa Bratina, Vallo Tillmann, Olaf Hiort, Alberto M Pereira

    Diterbitkan 2021-02-01
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  5. 5
    Current models of care for disorders of sex development – results from an International survey of specialist centres

    Current models of care for disorders of sex development – results from an International survey of specialist centres oleh Andreas Kyriakou, Arianne Dessens, Jillian Bryce, Violeta Iotova, Anders Juul, Maciej Krawczynski, Agneta Nordenskjöld, Marta Rozas, Caroline Sanders, Olaf Hiort, S. Faisal Ahmed

    Diterbitkan 2016-11-01
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  6. 6
    New NR5A1 mutations and phenotypic variations of gonadal dysgenesis.

    New NR5A1 mutations and phenotypic variations of gonadal dysgenesis. oleh Ralf Werner, Isabel Mönig, Ralf Lünstedt, Lutz Wünsch, Christoph Thorns, Benedikt Reiz, Alexandra Krause, Karl Otfried Schwab, Gerhard Binder, Paul-Martin Holterhus, Olaf Hiort

    Diterbitkan 2017-01-01
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  7. 7
    A Recurrent Germline Mutation in the 5'UTR of the Androgen Receptor Causes Complete Androgen Insensitivity by Activating Aberrant uORF Translation.

    A Recurrent Germline Mutation in the 5'UTR of the Androgen Receptor Causes Complete Androgen Insensitivity by Activating Aberrant uORF Translation. oleh Nadine C Hornig, Carine de Beaufort, Friederike Denzer, Martine Cools, Martin Wabitsch, Martin Ukat, Alexandra E Kulle, Hans-Udo Schweikert, Ralf Werner, Olaf Hiort, Laura Audi, Reiner Siebert, Ole Ammerpohl, Paul-Martin Holterhus

    Diterbitkan 2016-01-01
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  8. 8
    Androgen receptor function links human sexual dimorphism to DNA methylation.

    Androgen receptor function links human sexual dimorphism to DNA methylation. oleh Ole Ammerpohl, Susanne Bens, Mahesh Appari, Ralf Werner, Bernhard Korn, Stenvert L S Drop, Frans Verheijen, Yvonne van der Zwan, Trevor Bunch, Ieuan Hughes, Martine Cools, Felix G Riepe, Olaf Hiort, Reiner Siebert, Paul-Martin Holterhus

    Diterbitkan 2013-01-01
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  9. 9
    <i>DHX37</i> and <i>NR5A1</i> Variants Identified in Patients with 46,XY Partial Gonadal Dysgenesis

    <i>DHX37</i> and <i>NR5A1</i> Variants Identified in Patients with 46,XY Partial Gonadal Dysgenesis oleh Felipe Rodrigues de Oliveira, Taís Nitsch Mazzola, Maricilda Palandi de Mello, Ana Paula Francese-Santos, Sofia Helena V. de Lemos-Marini, Andrea Trevas Maciel-Guerra, Olaf Hiort, Ralf Werner, Gil Guerra-Junior, Helena Fabbri-Scallet

    Diterbitkan 2023-04-01
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  10. 10
    Starting point for benchmarking outcomes and reporting of pituitary adenoma surgery within the European Reference Network on Rare Endocrine Conditions (Endo-ERN): results from a meta-analysis and survey study

    Starting point for benchmarking outcomes and reporting of pituitary adenoma surgery within the European Reference Network on Rare Endocrine Conditions (Endo-ERN): results from a me... oleh Amir H Zamanipoor Najafabadi, Merel van der Meulen, Ana Luisa Priego Zurita, S Faisal Ahmed, Wouter R van Furth, Evangelia Charmandari, Olaf Hiort, Alberto M Pereira, Mehul Dattani, Diana Vitali, Johan P de Graaf, Nienke R Biermasz

    Diterbitkan 2022-12-01
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  11. 11
    Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN)

    Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN) oleh Thomas Eggermann, Miriam Elbracht, Ingo Kurth, Anders Juul, Trine Holm Johannsen, Irène Netchine, George Mastorakos, Gudmundur Johannsson, Thomas J. Musholt, Martin Zenker, Dirk Prawitt, Alberto M. Pereira, Olaf Hiort, on behalf of the European Reference Network on Rare Endocrine Conditions (ENDO-ERN

    Diterbitkan 2020-06-01
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  12. 12
    Satisfaction with a new patient education program for children, adolescents, and young adults with differences of sex development (DSD) and their parents.

    Satisfaction with a new patient education program for children, adolescents, and young adults with differences of sex development (DSD) and their parents. oleh Sabine Wiegmann, Ralph Schilling, Mirja Winter, Martina Ernst, Katja Wechsung, Ute Kalender, Barbara Stöckigt, Annette Richter-Unruh, Olaf Hiort, Ulla Döhnert, Louise Marshall, Julia Rohayem, Klaus-Peter Liesenkötter, Martin Wabitsch, Gloria Herrmann, Gundula Ernst, Stephanie Roll, Thomas Keil, Uta Neumann

    Diterbitkan 2024-12-01
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  13. 13
    A Novel Look at Dosage-Sensitive Sex Locus Xp21.2 in a Case of 46,XY Partial Gonadal Dysgenesis without <i>NR0B1</i> Duplication

    A Novel Look at Dosage-Sensitive Sex Locus Xp21.2 in a Case of 46,XY Partial Gonadal Dysgenesis without <i>NR0B1</i> Duplication oleh Ana Paula Francese-Santos, Jakob A. Meinel, Cristiane S. C. Piveta, Juliana G. R. Andrade, Beatriz A. Barros, Helena Fabbri-Scallet, Vera Lúcia Gil-da-Silva-Lopes, Gil Guerra-Junior, Axel Künstner, Hauke Busch, Olaf Hiort, Maricilda P. de Mello, Ralf Werner, Andréa T. Maciel-Guerra

    Diterbitkan 2022-12-01
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  14. 14
    Minor hypospadias: the "tip of the iceberg" of the partial androgen insensitivity syndrome.

    Minor hypospadias: the "tip of the iceberg" of the partial androgen insensitivity syndrome. oleh Nicolas Kalfa, Pascal Philibert, Ralf Werner, Françoise Audran, Anu Bashamboo, Hélène Lehors, Myriam Haddad, Jean Michel Guys, Rachel Reynaud, Pierre Alessandrini, Kathy Wagner, Jean Yves Kurzenne, Florence Bastiani, Jean Bréaud, Jean Stéphane Valla, Gérard Morisson Lacombe, Mattea Orsini, Jean-Pierre Daures, Olaf Hiort, Françoise Paris, Kenneth McElreavey, Charles Sultan

    Diterbitkan 2013-01-01
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  15. 15
    Development and evaluation of a patient education programme for children, adolescents, and young adults with differences of sex development (DSD) and their parents: study protocol of Empower-DSD

    Development and evaluation of a patient education programme for children, adolescents, and young adults with differences of sex development (DSD) and their parents: study protocol... oleh Sabine Wiegmann, Martina Ernst, Loretta Ihme, Katja Wechsung, Ute Kalender, Barbara Stöckigt, Annette Richter-Unruh, Sander Vögler, Olaf Hiort, Martina Jürgensen, Louise Marshall, Ingo Menrath, Julia Schneidewind, Isabel Wagner, Julia Rohayem, Klaus-Peter Liesenkötter, Martin Wabitsch, Malaika Fuchs, Gloria Herrmann, Henriette Lutter, Gundula Ernst, Christine Lehmann, Martina Haase, Stephanie Roll, Ralph Schilling, Thomas Keil, Uta Neumann

    Diterbitkan 2022-06-01
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  16. 16
    Transition for adolescents with a rare disease: results of a nationwide German project

    Transition for adolescents with a rare disease: results of a nationwide German project oleh Corinna Grasemann, Jakob Höppner, Peter Burgard, Michael M. Schündeln, Nora Matar, Gabriele Müller, Heiko Krude, Reinhard Berner, Min Ae Lee-Kirsch, Fabian Hauck, Kerstin Wainwright, Sylvana Baumgarten, Janet Atinga, Jens J. Bauer, Eva Manka, Julia Körholz, Cordula Kiewert, André Heinen, Tanita Kretschmer, Tobias Kurth, Janna Mittnacht, Christoph Schramm, Christoph Klein, Holm Graessner, Olaf Hiort, Ania C. Muntau, Annette Grüters, Georg F. Hoffmann, Daniela Choukair

    Diterbitkan 2023-04-01
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  17. 17
    The genetic diagnosis of rare endocrine disorders of sex development and maturation: a survey among Endo-ERN centres

    The genetic diagnosis of rare endocrine disorders of sex development and maturation: a survey among Endo-ERN centres oleh Luca Persani, Martine Cools, Stamatina Ioakim, S Faisal Ahmed, Silvia Andonova, Magdalena Avbelj-Stefanija, Federico Baronio, Jerome Bouligand, Hennie T Bruggenwirth, Justin H Davies, Elfride De Baere, Iveta Dzivite-Krisane, Paula Fernandez-Alvarez, Alexander Gheldof, Claudia Giavoli, Claus H Gravholt, Olaf Hiort, Paul-Martin Holterhus, Anders Juul, Csilla Krausz, Kristina Lagerstedt-Robinson, Ruth McGowan, Uta Neumann, Antonio Novelli, Xavier Peyrassol, Leonidas A Phylactou, Julia Rohayem, Philippe Touraine, Dineke Westra, Valeria Vezzoli, Raffaella Rossetti

    Diterbitkan 2022-11-01
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  18. 18
    Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex developmentResearch in context

    Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex developmentResearch in context oleh Chrysanthi Kouri, Grit Sommer, Idoia Martinez de Lapiscina, Rawda Naamneh Elzenaty, Lloyd J.W. Tack, Martine Cools, S. Faisal Ahmed, Christa E. Flück, Saygin Abali, Zehra Yavas Abali, Leyla Akin, Maricruz Almaraz, Laura Audí, Murat Aydin, Antonio Balsamo, Federico Baronio, Jillian Bryce, Kanetee Busiah, Maria Caimari, Núria Camats-Tarruella, Ariadna Campos-Martorell, Luis Castaño, Anna Casteràs, Semra Çetinkaya, Yee-Ming Chan, Hedi L. Claahsen-van der Grinten, Ines Costa, Fatma Feyza Darendeliler, Justin H. Davies, Isabel Esteva, Helena Fabbri-Scallet, Courtney A. Finlayson, Emilio Garcia, Beatriz Garcia Cuartero, Alina German, Evgenia Globa, Gil Guerra-Junior, Julio Guerrero, Tulay Guran, Sabine E. Hannema, Olaf Hiort, Josephine Hirsch, Leuan Hughes, Marco Janner, Zofia Kolesinska, Katherine Lachlan, Anna Lauber-Biason, Jana Krenek Malikova, Dagmar l'Allemand, Nina Lenhnerr-Taube, Angela Lucas-Herald, Jamala Mammadova, Kenneth MсElreavey, Veronica Mericq, Isabel Mönig, Francisca Moreno, Julia Mührer, Marek Niedziela, Anna Nordenstrom, Burçe Orman, Sukran Poyrazoglu, Jose M. Rial, Meilan M. Rutter, Amaia Rodríguez, Tara Schafer-Kalkhoff, Kay-Sara Sauter, Sumudu Nimali Seneviratne, Maria Sredkova-Ruskova, Rieko Tadokoro-Cuccaro, Ajay Thankamony, Mónica Tomé, Amaia Vela, Malgorzata Wasniewska, David Zangen, Nataliya Zelinska

    Diterbitkan 2024-01-01
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