Výsledky vyhledávání - Rost, Simone

Confirmation of warfarin resistance of naturally occurring VKORC1 variants by coexpression with coagulation factor IX and in silico protein modelling Autor Müller, Elisabeth, Keller, Alexander, Fregin, Andreas, Müller, Clemens R, Rost, Simone

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Identification of variants in MBNL1 in patients with a myotonic dystrophy-like phenotype Autor Larsen, Mirjam, Kress, Wolfram, Schoser, Benedikt, Hehr, Ute, Müller, Clemens R, Rost, Simone

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Distribution and Structure of DM2 Repeat Tract Alleles in the German Population Autor Mahyera, Alexis S., Schneider, Tamara, Halliger-Keller, Birgit, Schrooten, Katja, Hörner, Eva-Maria, Rost, Simone, Kress, Wolfram

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New Insights on Genetic Diagnostics in Cardiomyopathy and Arrhythmia Patients Gained by Stepwise Exome Data Analysis Autor Kolokotronis, Konstantinos, Pluta, Natalie, Klopocki, Eva, Kunstmann, Erdmute, Messroghli, Daniel, Maack, Christoph, Tejman-Yarden, Shai, Arad, Michael, Rost, Simone, Gerull, Brenda

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Novel mutations in the VKORC1 gene of wild rats and mice – a response to 50 years of selection pressure by warfarin? Autor Rost, Simone, Pelz, Hans-Joachim, Menzel, Sandra, MacNicoll, Alan D, León, Vanina, Song, Ki-Joon, Jäkel, Thomas, Oldenburg, Johannes, Müller, Clemens R

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Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1 Autor Larsen, Mirjam, Rost, Simone, El Hajj, Nady, Ferbert, Andreas, Deschauer, Marcus, Walter, Maggie C, Schoser, Benedikt, Tacik, Pawel, Kress, Wolfram, Müller, Clemens R

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Single CpG hypermethylation, allele methylation errors, and decreased expression of multiple tumor suppressor genes in normal body cells of mutation‐negative early‐onset and high‐r... Autor Böck, Julia, Appenzeller, Silke, Haertle, Larissa, Schneider, Tamara, Gehrig, Andrea, Schröder, Jörg, Rost, Simone, Wolf, Beat, Bartram, Claus R., Sutter, Christian, Haaf, Thomas

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Paternal age effects on sperm FOXK1 and KCNA7 methylation and transmission into the next generation Autor Atsem, Stefanie, Reichenbach, Juliane, Potabattula, Ramya, Dittrich, Marcus, Nava, Caroline, Depienne, Christel, Böhm, Lena, Rost, Simone, Hahn, Thomas, Schorsch, Martin, Haaf, Thomas, El Hajj, Nady

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Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6 Autor Rost, Simone, Bach, Elisa, Neuner, Cordula, Nanda, Indrajit, Dysek, Sandra, Bittner, Reginald E, Keller, Alexander, Bartsch, Oliver, Mlynski, Robert, Haaf, Thomas, Müller, Clemens R, Kunstmann, Erdmute

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Targeted Gene Expression Profile Reveals CDK4 as Therapeutic Target for Selected Patients With Adrenocortical Carcinoma Autor Liang, Raimunde, Weigand, Isabel, Lippert, Juliane, Kircher, Stefan, Altieri, Barbara, Steinhauer, Sonja, Hantel, Constanze, Rost, Simone, Rosenwald, Andreas, Kroiss, Matthias, Fassnacht, Martin, Sbiera, Silviu, Ronchi, Cristina L.

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The Genetic Basis of Resistance to Anticoagulants in Rodents Autor Pelz, Hans-Joachim, Rost, Simone, Hünerberg, Mirja, Fregin, Andreas, Heiberg, Ann-Charlotte, Baert, Kristof, MacNicoll, Alan D., Prescott, Colin V., Walker, Anne-Sophie, Oldenburg, Johannes, Müller, Clemens R.

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Early and lethal neurodegeneration with myasthenic and myopathic features: A new ALG14-CDG Autor Schorling, David C., Rost, Simone, Lefeber, Dirk J., Brady, Lauren, Müller, Clemens R., Korinthenberg, Rudolf, Tarnopolsky, Mark, Bönnemann, Carsten G., Rodenburg, Richard J., Bugiani, Marianna, Beytia, Maria, Krüger, Marcus, van der Knaap, Marjo, Kirschner, Jan

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Exon-4 Mutations in KRAS Affect MEK/ERK and PI3K/AKT Signaling in Human Multiple Myeloma Cell Lines Autor Weißbach, Susann, Heredia-Guerrero, Sofia Catalina, Barnsteiner, Stefanie, Großhans, Lukas, Bodem, Jochen, Starz, Hanna, Langer, Christian, Appenzeller, Silke, Knop, Stefan, Steinbrunn, Torsten, Rost, Simone, Einsele, Hermann, Bargou, Ralf Christian, Rosenwald, Andreas, Stühmer, Thorsten, Leich, Ellen

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