Sökresultat - Köhler, Birgit
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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... av Köhler, Birgit, Lin, Lin, Mazen, Inas, Cetindag, Cigdem, Biebermann, Heike, Akkurt, Ilker, Rossi, Rainer, Hiort, Olaf, Grüters, Annette, Achermann, John C
Publicerad 2009Text -
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Multicentre cross-sectional clinical evaluation study about quality of life in adults with disorders/differences of sex development (DSD) compared to country specific reference pop... av Rapp, Marion, Mueller-Godeffroy, Esther, Lee, Peter, Roehle, Robert, Kreukels, Baudewijntje P. C., Köhler, Birgit, Nordenström, Anna, Bouvattier, Claire, Thyen, Ute
Publicerad 2018Text -
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Testosterone production during puberty in two 46,XY patients with disorders of sex development and novel NR5A1 (SF-1) mutations av Tantawy, Sally, Lin, Lin, Akkurt, Ilker, Borck, Guntram, Klingmüller, Dietrich, Hauffa, Berthold P, Krude, Heiko, Biebermann, Heike, Achermann, John C, Köhler, Birgit
Publicerad 2012Text -
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Caring for individuals with a difference of sex development (DSD): a Consensus Statement av Cools, Martine, Nordenström, Anna, Robeva, Ralitsa, Hall, Joanne, Westerveld, Puck, Flück, Christa, Köhler, Birgit, Berra, Marta, Springer, Alexander, Schweizer, Katinka, Pasterski, Vickie
Publicerad 2018Text -
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Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency av Köhler, Birgit, Lin, Lin, Ferraz-de-Souza, Bruno, Wieacker, Peter, Heidemann, Peter, Schröder, Vanessa, Biebermann, Heike, Schnabel, Dirk, Grüters, Annette, Achermann, John C
Publicerad 2008Text -
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Health status in 1040 adults with disorders of sex development (DSD): a European multicenter study av Falhammar, Henrik, Claahsen-van der Grinten, Hedi, Reisch, Nicole, Slowikowska-Hilczer, Jolanta, Nordenström, Anna, Roehle, Robert, Bouvattier, Claire, Kreukels, Baudewijntje P C, Köhler, Birgit
Publicerad 2018Text -
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Participation of adults with disorders/differences of sex development (DSD) in the clinical study dsd-LIFE: design, methodology, recruitment, data quality and study population av Röhle, Robert, Gehrmann, Katharina, Szarras-Czapnik, Maria, Claahsen-van der Grinten, Hedi, Pienkowski, Catherine, Bouvattier, Claire, Cohen-Kettenis, Peggy, Nordenström, Anna, Thyen, Ute, Köhler, Birgit
Publicerad 2017Text -
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Biodiversity of mycobial communities in health and onychomycosis av Olbrich, Michael, Ernst, Anna Lara, Beltsiou, Foteini, Bieber, Katja, Ständer, Sascha, Harder, Melanie, Anemüller, Waltraud, Köhler, Birgit, Zillikens, Detlef, Busch, Hauke, Künstner, Axel, Ludwig, Ralf J.
Publicerad 2022Text -
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Sleep Timing in Patients with Precocious and Delayed Pubertal Development av Jessen, Elena, Vetter, Celine, Roenneberg, Till, Liesenkötter, Klaus-Peter, Werner, Helene, Jenni, Oskar G., Lankes, Erwin, Blankenstein, Oliver, Neumann, Uta, Köhler, Birgit, Wiegand, Susanna, Krude, Heiko, Kühnen, Peter
Publicerad 2019Text -
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Mental Health of a Large Group of Adults With Disorders of Sex Development in Six European Countries av de Vries, Annelou L.C., Roehle, Robert, Marshall, Louise, Frisén, Louise, van de Grift, Tim C., Kreukels, Baudewijntje P.C., Bouvattier, Claire, Köhler, Birgit, Thyen, Ute, Nordenström, Anna, Rapp, Marion, Cohen-Kettenis, Peggy T.
Publicerad 2019Text -
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Pubertal Presentation in Seven Patients with Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency av Idkowiak, Jan, O'Riordan, Stephen, Reisch, Nicole, Malunowicz, Ewa M., Collins, Felicity, Kerstens, Michiel N., Köhler, Birgit, Graul-Neumann, Luitgard Margarete, Szarras-Czapnik, Maria, Dattani, Mehul, Silink, Martin, Shackleton, Cedric H. L., Maiter, Dominique, Krone, Nils, Arlt, Wiebke
Publicerad 2011Text -
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Quality of Life in Men With Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency av Verhees, Myrthe J. M., Engels, Manon, Span, Paul N., Sweep, Fred C. G. J., van Herwaarden, Antonius E., Falhammar, Henrik, Nordenström, Anna, Webb, Emma A., Richter-Unruh, Annette, Bouvattier, Claire, de la Perrière, Aude Brac, Arlt, Wiebke, Reisch, Nicole, Köhler, Birgit, Rapp, Marion, Stikkelbroeck, Nike M. M. L., Roeleveld, Nel, Claahsen-van der Grinten, Hedi L.
Publicerad 2021Text -
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Genotype-Phenotype Analysis in Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency av Krone, Nils, Reisch, Nicole, Idkowiak, Jan, Dhir, Vivek, Ivison, Hannah E., Hughes, Beverly A., Rose, Ian T., O'Neil, Donna M., Vijzelaar, Raymon, Smith, Matthew J., MacDonald, Fiona, Cole, Trevor R., Adolphs, Nicolai, Barton, John S., Blair, Edward M., Braddock, Stephen R., Collins, Felicity, Cragun, Deborah L., Dattani, Mehul T., Day, Ruth, Dougan, Shelley, Feist, Miriam, Gottschalk, Michael E., Gregory, John W., Haim, Michaela, Harrison, Rachel, Haskins Olney, Ann, Hauffa, Berthold P., Hindmarsh, Peter C., Hopkin, Robert J., Jira, Petr E., Kempers, Marlies, Kerstens, Michiel N., Khalifa, Mohamed M., Köhler, Birgit, Maiter, Dominique, Nielsen, Shelly, O'Riordan, Stephen M., Roth, Christian L., Shane, Kate P., Silink, Martin, Stikkelbroeck, Nike M. M. L., Sweeney, Elizabeth, Szarras-Czapnik, Maria, Waterson, John R., Williamson, Lori, Hartmann, Michaela F., Taylor, Norman F., Wudy, Stefan A., Malunowicz, Ewa M., Shackleton, Cedric H. L., Arlt, Wiebke
Publicerad 2012Text