检索结果 - Rost, Simone

Confirmation of warfarin resistance of naturally occurring VKORC1 variants by coexpression with coagulation factor IX and in silico protein modelling 由 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 由 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 由 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 由 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? 由 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 由 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... 由 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 由 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 由 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 由 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 由 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 由 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 由 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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