Hasil Pencarian - Angela Huebner

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  1. 1
    Triple A patient cells suffering from mitotic defects fail to localize PGRMC1 to mitotic kinetochore fibers

    Triple A patient cells suffering from mitotic defects fail to localize PGRMC1 to mitotic kinetochore fibers oleh Ramona Jühlen, Dana Landgraf, Angela Huebner, Katrin Koehler

    Diterbitkan 2018-11-01
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  2. 2
    Identification of a novel putative interaction partner of the nucleoporin ALADIN

    Identification of a novel putative interaction partner of the nucleoporin ALADIN oleh Ramona Jühlen, Dana Landgraf, Angela Huebner, Katrin Koehler

    Diterbitkan 2016-11-01
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  3. 3
    Biochemical Diagnosis of Catecholamine-Producing Tumors of Childhood: Neuroblastoma, Pheochromocytoma and Paraganglioma

    Biochemical Diagnosis of Catecholamine-Producing Tumors of Childhood: Neuroblastoma, Pheochromocytoma and Paraganglioma oleh Graeme Eisenhofer, Graeme Eisenhofer, Mirko Peitzsch, Nicole Bechmann, Angela Huebner

    Diterbitkan 2022-07-01
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  4. 4
    “Crying without tears” as an early diagnostic sign-post of triple A (Allgrove) syndrome: two case reports

    “Crying without tears” as an early diagnostic sign-post of triple A (Allgrove) syndrome: two case reports oleh Daniel Tibussek, Sujal Ghosh, Angela Huebner, Joerg Schaper, Ertan Mayatepek, Katrin Koehler

    Diterbitkan 2018-01-01
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  5. 5
    Compensation for chronic oxidative stress in ALADIN null mice

    Compensation for chronic oxidative stress in ALADIN null mice oleh Ramona Jühlen, Mirko Peitzsch, Sebastian Gärtner, Dana Landgraf, Graeme Eisenhofer, Angela Huebner, Katrin Koehler

    Diterbitkan 2018-01-01
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  6. 6
    Role of ALADIN in human adrenocortical cells for oxidative stress response and steroidogenesis.

    Role of ALADIN in human adrenocortical cells for oxidative stress response and steroidogenesis. oleh Ramona Jühlen, Jan Idkowiak, Angela E Taylor, Barbara Kind, Wiebke Arlt, Angela Huebner, Katrin Koehler

    Diterbitkan 2015-01-01
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  7. 7
    Fertility and sexual activity in patients with Triple A syndrome

    Fertility and sexual activity in patients with Triple A syndrome oleh Katja K. Dumic, Claudine Heinrichs, Katrin Koehler, Angela Huebner, Miroslav Dumic, Vesna Kusec, Tina Dusek, Friederike Quitter

    Diterbitkan 2024-03-01
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  8. 8
    Phenotype–genotype spectrum of AAA syndrome from Western India and systematic review of literature

    Phenotype–genotype spectrum of AAA syndrome from Western India and systematic review of literature oleh Hiren Patt, Katrin Koehler, Sailesh Lodha, Swati Jadhav, Chaitanya Yerawar, Angela Huebner, Kunal Thakkar, Sneha Arya, Sandhya Nair, Manjunath Goroshi, Hosahithlu Ganesh, Vijaya Sarathi, Anurag Lila, Tushar Bandgar, Nalini Shah

    Diterbitkan 2017-11-01
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  9. 9
    Hydrocortisone dosing in children with classic congenital adrenal hyperplasia: results of the German/Austrian registry

    Hydrocortisone dosing in children with classic congenital adrenal hyperplasia: results of the German/Austrian registry oleh Heike Hoyer-Kuhn, Angela Huebner, Anette Richter-Unruh, Markus Bettendorf, Tilman Rohrer, Klaus Kapelari, Stefan Riedl, Klaus Mohnike, Helmuth-Günther Dörr, Friedrich-Wilhelm Roehl, Katharina Fink, Reinhard W Holl, Joachim Woelfle

    Diterbitkan 2021-05-01
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  10. 10
    A Humanized and Viable Animal Model for Congenital Adrenal Hyperplasia–<i>CYP21A2</i>-R484Q Mutant Mouse

    A Humanized and Viable Animal Model for Congenital Adrenal Hyperplasia–<i>CYP21A2</i>-R484Q Mutant Mouse oleh Shamini Ramkumar Thirumalasetty, Tina Schubert, Ronald Naumann, Ilka Reichardt, Marie-Luise Rohm, Dana Landgraf, Florian Gembardt, Mirko Peitzsch, Michaela F. Hartmann, Mihail Sarov, Stefan A. Wudy, Nicole Reisch, Angela Huebner, Katrin Koehler

    Diterbitkan 2024-05-01
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  11. 11
    Very early and severe presentation of Triple A syndrome – case report and review of the literature

    Very early and severe presentation of Triple A syndrome – case report and review of the literature oleh Maja Cehic, Katarina Mitrovic, Katarina Mitrovic, Rade Vukovic, Rade Vukovic, Tatjana Milenkovic, Gordana Kovacevic, Gordana Kovacevic, Sladjana Todorovic, Sanja Panic Zaric, Dimitrije Cvetkovic, Aleksandra Paripovic, Aleksandra Paripovic, Angela Huebner, Katrin Koehler, Friederike Quitter

    Diterbitkan 2024-09-01
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  12. 12
    Cancer Stem Cells in Pheochromocytoma and Paraganglioma

    Cancer Stem Cells in Pheochromocytoma and Paraganglioma oleh Laura D. Scriba, Stefan R. Bornstein, Stefan R. Bornstein, Alice Santambrogio, Alice Santambrogio, Gregor Mueller, Angela Huebner, Julia Hauer, Andreas Schedl, Ben Wielockx, Graeme Eisenhofer, Graeme Eisenhofer, Cynthia L. Andoniadou, Cynthia L. Andoniadou, Charlotte Steenblock

    Diterbitkan 2020-02-01
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  13. 13
    Double NF1 inactivation affects adrenocortical function in NF1Prx1 mice and a human patient.

    Double NF1 inactivation affects adrenocortical function in NF1Prx1 mice and a human patient. oleh Karolina Kobus, Daniela Hartl, Claus Eric Ott, Monika Osswald, Angela Huebner, Maja von der Hagen, Denise Emmerich, Jirko Kühnisch, Hans Morreau, Frederik J Hes, Victor F Mautner, Anja Harder, Sigrid Tinschert, Stefan Mundlos, Mateusz Kolanczyk

    Diterbitkan 2015-01-01
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  14. 14
    Biallelic NDC1 variants that interfere with ALADIN binding are associated with neuropathy and triple A-like syndrome

    Biallelic NDC1 variants that interfere with ALADIN binding are associated with neuropathy and triple A-like syndrome oleh Daphne J. Smits, Jordy Dekker, Hannie Douben, Rachel Schot, Helen Magee, Somayeh Bakhtiari, Katrin Koehler, Angela Huebner, Markus Schuelke, Hossein Darvish, Shohreh Vosoogh, Abbas Tafakhori, Melika Jameie, Ehsan Taghiabadi, Yana Wilson, Margit Shah, Marjon A. van Slegtenhorst, Evita G. Medici-van den Herik, Tjakko J. van Ham, Michael C. Kruer, Grazia M.S. Mancini

    Diterbitkan 2024-10-01
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