检索结果 - Huebner, Angela

Triple A syndrome: two novel mutations in the AAAS gene 由 Thümmler, Susanne, Huebner, Angela, Baechler-Sadoul, Elisabeth

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Mutations of the AAAS gene in an Indian family with Allgrove's syndrome 由 Mukhopadhya, Ashis, Danda, Sumita, Huebner, Angela, Chacko, Ashok

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

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

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SAT-254 Combination of Octreotide and Dexamphetamine to Control Weight Gain in Pediatric Patients with Hypothalamic Obesity 由 Reschke, Felix, Knoefler, Ralf, Smitka, Martin, Huebner, Angela

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Triple A (Allgrove) syndrome: an unusual association with syringomyelia 由 Bizzarri, Carla, Benevento, Danila, Terzi, Cesare, Huebner, Angela, Cappa, Marco

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MON-175 Structural Instability as an Underlying Pathomechanism in Congenital Adrenal Hyperplasia 由 Meese, Nicolas, Paul, Pallabi Sil, Haslbeck, Martin, Huebner, Angela, Reisch, Nicole

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

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

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MON-185 ACTH-Derived Peptide Antagonists as an Alternative Treatment Strategy for Congenital Adrenal Hyperplasia 由 Schubert, Tina, Nicke, Lennart, Schanze, André, Reisch, Nicole, Geyer, Armin, Koehler, Katrin, Huebner, Angela

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Role of ALADIN in Human Adrenocortical Cells for Oxidative Stress Response and Steroidogenesis 由 Jühlen, Ramona, Idkowiak, Jan, Taylor, Angela E., Kind, Barbara, Arlt, Wiebke, Huebner, Angela, Koehler, Katrin

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ALADIN is required for the production of fertile mouse oocytes 由 Carvalhal, Sara, Stevense, Michelle, Koehler, Katrin, Naumann, Ronald, Huebner, Angela, Jessberger, Rolf, Griffis, Eric R.

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SUN-222 Pre- and Post-Pubertal Reference Ranges for Oxygenated Androgens in Saliva 由 Adaway, Joanne, Eisenhofer, Graeme, Huebner, Angela, Krone, Nils, McTaggart, Malcolm, Peitzsch, Mirko, Keevil, Brian George

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The nucleoporin ALADIN regulates Aurora A localization to ensure robust mitotic spindle formation 由 Carvalhal, Sara, Ribeiro, Susana Abreu, Arocena, Miguel, Kasciukovic, Taciana, Temme, Achim, Koehler, Katrin, Huebner, Angela, Griffis, Eric R.

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Deficiency of Ferritin Heavy-Chain Nuclear Import in Triple A Syndrome Implies Nuclear Oxidative Damage as the Primary Disease Mechanism 由 Storr, Helen L., Kind, Barbara, Parfitt, David A., Chapple, J. Paul, Lorenz, M., Koehler, Katrin, Huebner, Angela, Clark, Adrian J. L.

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Mice Lacking the Nuclear Pore Complex Protein ALADIN Show Female Infertility but Fail To Develop a Phenotype Resembling Human Triple A Syndrome 由 Huebner, Angela, Mann, Philipp, Rohde, Elvira, Kaindl, Angela M., Witt, Martin, Verkade, Paul, Jakubiczka, Sibylle, Menschikowski, Mario, Stoltenburg-Didinger, Gisela, Koehler, Katrin

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Abnormal centrosome and spindle morphology in a patient with autosomal recessive primary microcephaly type 2 due to compound heterozygous WDR62 gene mutation 由 Farag, Heba Gamal, Froehler, Sebastian, Oexle, Konrad, Ravindran, Ethiraj, Schindler, Detlev, Staab, Timo, Huebner, Angela, Kraemer, Nadine, Chen, Wei, Kaindl, Angela M

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Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK 由 Gallenmüller, Constanze, Müller-Felber, Wolfgang, Dusl, Marina, Stucka, Rolf, Guergueltcheva, Velina, Blaschek, Astrid, von der Hagen, Maja, Huebner, Angela, Müller, Juliane S., Lochmüller, Hanns, Abicht, Angela

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

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Diabetes and Neurodegeneration in Wolfram Syndrome: A multicenter study of phenotype and genotype 由 Rohayem, Julia, Ehlers, Christian, Wiedemann, Bärbel, Holl, Reinhard, Oexle, Konrad, Kordonouri, Olga, Salzano, Giuseppina, Meissner, Thomas, Burger, Walter, Schober, Edith, Huebner, Angela, Lee-Kirsch, Min Ae

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