Výsledky vyhledávání - Stefan A. Wudy
- Zobrazuji výsledky 1 - 19 z 19
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Homozygous Mutation G539R in the Gene for P450 Oxidoreductase in a Family Previously Diagnosed as Having 17,20-Lyase Deficiency Autor Eli Hershkovitz, Ruthi Parvari, Stefan A. Wudy, Michaela F. Hartmann, Larissa Gomes, Neta Loewental, Walter L. Miller
Vydáno 2008Artigo -
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GENETICS IN ENDOCRINOLOGY: Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 ‘... Autor Laura Audí, S. Faisal Ahmed, Nils Krone, Martine Cools, Ken McElreavey, Paul‐Martin Holterhus, Andy Greenfield, Anu Bashamboo, Olaf Hiort, Stefan A. Wudy, Ruth McGowan, _ _
Vydáno 2018Revisão -
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Steroid hormone analysis in diagnosis and treatment of DSD: position paper of EU COST Action BM 1303 ‘DSDnet’ Autor Alexandra Kulle, Nils Krone, PM Holterhus, Gerhard Schüler, Ronda F. Greaves, Anders Juul, Yolanda B. de Rijke, Michaela F. Hartmann, Alessandro Saba, Olaf Hiort, Stefan A. Wudy, _ _
Vydáno 2017Revisão -
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Membrane Transporters for Sulfated Steroids in the Human Testis - Cellular Localization, Expression Pattern and Functional Analysis Autor Daniela Fietz, Katharina Bakhaus, Britta Wapelhorst, Gary Grosser, Sabine Günther, Jörg Alber, Barbara Döring, Sabine Kliesch, W. Weidner, Christina E. Galuska, Michaela F. Hartmann, Stefan A. Wudy, Martin Bergmann, Joachim Geyer
Vydáno 2013Artigo -
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Addressing gaps in care of people with conditions affecting sex development and maturation Autor Olaf Hiort, Martine Cools, Alexander Springer, Ken McElreavey, Andy Greenfield, Stefan A. Wudy, Alexandra Kulle, S. Faisal Ahmed, Arianne B. Dessens, Antonio Balsamo, Mohamad Maghnie, Marco Bonomi, Mehul Dattani, Luca Persani, Laura Audı́
Vydáno 2019Revisão -
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The Use of Bone Age in Clinical Practice – Part 2 Autor David Martín, Jan M. Wit, Ze’ev Hochberg, Rick R. van Rijn, Oliver Fricke, George A. Werther, Noël Cameron, Thomas Hertel, Stefan A. Wudy, Gary Butler, Hans Henrik Thodberg, Gerhard Binder, Michael B. Ranke
Vydáno 2011Revisão -
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Ghrelin Receptor Gene: Identification of Several Sequence Variants in Extremely Obese Children and Adolescents, Healthy Normal-Weight and Underweight Students, and Children with Sh... Autor Haijun Wang, Frank Geller, Astrid Dempfle, Nadine Schäuble, Susann Friedel, Peter Lichtner, Francisco Fontenla-Horro, Stefan A. Wudy, Sandra Hagemann, Ludwig Gortner, Klaus Huse, Helmut Remschmidt, Thomas Bettecken, Thomas Meitinger, H. Schäfer, Johannes Hebebrand, Anke Hinney
Vydáno 2004Artigo -
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Novel H6PDH mutations in two girls with premature adrenarche: ‘apparent’ and ‘true’ CRD can be differentiated by urinary steroid profiling Autor Gareth G. Lavery, Jan Idkowiak, Mark Sherlock, Iwona Bujalska, J.P. Ride, Khalid M. Saqib, Michaela F. Hartmann, Beverly Hughes, Stefan A. Wudy, Jean De Schepper, Wiebke Arlt, Nils Krone, C.H.L. Shackleton, Elizabeth A. Walker, Paul M. Stewart
Vydáno 2012Artigo -
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Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management Autor Hedi L. Claahsen‐van der Grinten, Phyllis Speiser, S. Faisal Ahmed, Wiebke Arlt, Richard J. Auchus, Henrik Falhammar, Christa E. Flück, Leonardo Guasti, Angela Huebner, Barbara Kortmann, Nils Krone, Deborah P. Merke, Walter L. Miller, Anna Nordenström, Nicole Reisch, David E. Sandberg, Nike Stikkelbroeck, Philippe Touraine, Agustini Utari, Stefan A. Wudy, Perrin C. White
Vydáno 2021Revisão -
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Genotype-Phenotype Analysis in Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency Autor Nils Krone, Nicole Reisch, Jan Idkowiak, Vivek Dhir, Hannah E Ivison, Beverly Hughes, Ian T. Rose, Donna O’Neil, Raymon Vijzelaar, Matthew J. Smith, Fiona MacDonald, Trevor Cole, Nicolai Adolphs, John Barton, Edward Blair, Stephen R. Braddock, Felicity Collins, Deborah Cragun, Mehul Dattani, Ruth Day, Shelley Dougan, Miriam Feist, Michael Gottschalk, John W. Gregory, Michaela Haim, Rachel Harrison, Ann Haskins Olney, Berthold P. Hauffa, Peter C. Hindmarsh, Robert J. Hopkin, Petr Jira, Marlies Kempers, Michiel N. Kerstens, Mohamed M. Khalifa, Birgit Köhler, Dominique Maiter, Shelly Nielsen, Stephen O’Riordan, Christian Roth, Kate Shane-Carson, Martin Silink, Nike Stikkelbroeck, Elizabeth Sweeney, Maria Szarras‐Czapnik, John Waterson, Lori Williamson, Michaela F. Hartmann, Norman Taylor, Stefan A. Wudy, E Małunowicz, Cedric Shackleton, Wiebke Arlt
Vydáno 2011Artigo -
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Satisfaction with Genital Surgery and Sexual Life of Adults with XY Disorders of Sex Development: Results from the German Clinical Evaluation Study Autor Birgit Köhler, Eva Kleinemeier, Anke Lux, Olaf Hiort, Annette Grüters, Ute Thyen, İltaç Akkurt, N. Albers, Oliver Bartsch, Daniel Becker, Matthias W. Beckmann, Rolf Beetz, Markus Bettendorf, P. A. Beyer, Gerhard Binder, Thomas M. Boemers, Christian Brack, Almuth Caliebe, H. G. Dietz, J. Dobberphul, H. G. Dörr, F Eckholdt, Rainer Finke, Michael Fisch, C.E. Flück, D. Frohneberg, Imke Gätjen, H. Gitter, Annette Grüters, Rudolf Hampel, BP Hauffa, P Heidemann, Marianne Heinz, M. Hemmighaus, J. Hensen, Uwe Hofmann, Sven Höhne, Paul‐Martin Holterhus, Stuart Hosie, Klaus Kapelari, Beate Karges, Keller, W. Kiess, Antje Körner, Eckhard Korsch, S. Krege, U. Kuhnle-Krahl, D L'Allemand-Jander, C. Leriche, B. Leube, E. Loeser, Christian Lorenz, W. Marg, Hans Mau, Klaus Mohnike, Michel Morlot, P E Mullis, C. J. Partsch, Roland Pfäffle, Michael B. Ranke, Angela Rauch, Michael Riccabona, Annette Richter-Unruh, Felix G. Riepe, Tilman Rohrer, M. Roll, Wolfgang Rösch, S. Roth, Kirsten Salzgeber, Dominik Schmidt, G. Schott, P. Schröter, H. P. Schwarz, Dietrich von Schweinitz, S. Siemer, G. Simic-Schleicher, Gernot H.G. Sinnecker, W.G. Sippell, Michael Sohn, Raimund Stein, S. Tinschert, S. Uhlarik, K.-L. Waag, Martin Wabitsch, Franz Waldhauser, D. Wallwiener, L. Wessel, M. Westenfelder, Peter Wieacker, R. P. Willig, Jürgen Wintgens, Stefan A. Wudy, Lutz Wünsch, Achim Wüsthof, Uta Zeeh, G. Zöller, Silvano Bertelloni, Peggy T. Cohen–Kettenis, Ieuan A. Hughes, C Nihoul-Fékète
Vydáno 2011Artigo
Vyhledávací nástroje:
Související témata
Medicine
Internal medicine
Endocrinology
Biology
Hormone
Genetics
Androgen
Gene
Chemistry
Biochemistry
Mutation
Steroid
Testosterone (patch)
Androsterone
Dehydroepiandrosterone
Dehydroepiandrosterone sulfate
Disorders of sex development
Genotype
Missense mutation
Pathology
Position paper
Receptor
Adrenarche
Androstenedione
Bioinformatics
Compound heterozygosity
Computer science
Congenital adrenal hyperplasia
Dihydrotestosterone
Enzyme