Search Results - Szarras-Czapnik, Maria

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  1. 1
    Expanding the mutational spectrum of monogenic hypogonadotropic hypogonadism: novel mutations in ANOS1 and FGFR1 genes

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

    Published 2020
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  2. 2
    Participation of adults with disorders/differences of sex development (DSD) in the clinical study dsd-LIFE: design, methodology, recruitment, data quality and study population

    Participation of adults with disorders/differences of sex development (DSD) in the clinical study dsd-LIFE: design, methodology, recruitment, data quality and study population by 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

    Published 2017
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  3. 3
    Autocrine androgen action is essential for Leydig cell maturation and function, and protects against late-onset Leydig cell apoptosis in both mice and men

    Autocrine androgen action is essential for Leydig cell maturation and function, and protects against late-onset Leydig cell apoptosis in both mice and men by 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.

    Published 2015
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  4. 4
    Concomitant Mutations in the P450 Oxidoreductase and Androgen Receptor Genes Presenting with 46,XY Disordered Sex Development and Androgenization at Adrenarche

    Concomitant Mutations in the P450 Oxidoreductase and Androgen Receptor Genes Presenting with 46,XY Disordered Sex Development and Androgenization at Adrenarche by 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

    Published 2010
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  5. 5
    New findings in oligogenic inheritance of congenital hypogonadotropic hypogonadism

    New findings in oligogenic inheritance of congenital hypogonadotropic hypogonadism by 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

    Published 2020
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  6. 6
    Pubertal Presentation in Seven Patients with Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency

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

    Published 2011
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  7. 7
    Genotype-Phenotype Analysis in Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency

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

    Published 2012
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