检索结果 - Szarras-Czapnik, Maria

Expanding the mutational spectrum of monogenic hypogonadotropic hypogonadism: novel mutations in ANOS1 and FGFR1 genes 由 Gach, Agnieszka, Pinkier, Iwona, Szarras-Czapnik, Maria, Sakowicz, Agata, Jakubowski, Lucjusz

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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 由 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

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Autocrine androgen action is essential for Leydig cell maturation and function, and protects against late-onset Leydig cell apoptosis in both mice and men 由 O’Hara, Laura, McInnes, Kerry, Simitsidellis, Ioannis, Morgan, Stephanie, Atanassova, Nina, Slowikowska-Hilczer, Jolanta, Kula, Krzysztof, Szarras-Czapnik, Maria, Milne, Laura, Mitchell, Rod T., Smith, Lee B.

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Concomitant Mutations in the P450 Oxidoreductase and Androgen Receptor Genes Presenting with 46,XY Disordered Sex Development and Androgenization at Adrenarche 由 Idkowiak, Jan, Malunowicz, Ewa M., Dhir, Vivek, Reisch, Nicole, Szarras-Czapnik, Maria, Holmes, Donna M., Shackleton, Cedric H. L., Davies, John D., Hughes, Ieuan A., Krone, Nils, Arlt, Wiebke

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New findings in oligogenic inheritance of congenital hypogonadotropic hypogonadism 由 Gach, Agnieszka, Pinkier, Iwona, Wysocka, Urszula, Sałacińska, Kinga, Salachna, Dominik, Szarras-Czapnik, Maria, Pietrzyk, Aleksandra, Sakowicz, Agata, Nykel, Anna, Rutkowska, Lena, Rybak-Krzyszkowska, Magda, Socha, Magda, Jamsheer, Aleksander, Jakubowski, Lucjusz

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Pubertal Presentation in Seven Patients with Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency 由 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

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Genotype-Phenotype Analysis in Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency 由 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

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