Výsledky vyhledávání - Graf, Elisabeth

Disseminating legislative debates: How legislators communicate the parliamentary agenda Autor Huber, Lena Maria, Bodlos, Anita, Graf, Elisabeth, Meyer, Thomas M

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Reduced expression of β-catenin inhibitor Chibby in colon carcinoma cell lines Autor Schuierer, Marion M, Graf, Elisabeth, Takemaru, Ken-Ichi, Dietmaier, Wolfgang, Bosserhoff, Anja-Katrin

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Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limb Autor Umair, Muhammad, Shah, Khadim, Alhaddad, Bader, Haack, Tobias B, Graf, Elisabeth, Strom, Tim M, Meitinger, Thomas, Ahmad, Wasim

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Assessment of the genomic variation in a cattle population by re-sequencing of key animals at low to medium coverage Autor Jansen, Sandra, Aigner, Bernhard, Pausch, Hubert, Wysocki, Michal, Eck, Sebastian, Benet-Pagès, Anna, Graf, Elisabeth, Wieland, Thomas, Strom, Tim M, Meitinger, Thomas, Fries, Ruedi

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A de novo missense variant in GABRA4 alters receptor function in an epileptic and neurodevelopmental phenotype Autor Vogel, Florian D., Krenn, Martin, Westphal, Dominik S., Graf, Elisabeth, Wagner, Matias, Leiz, Steffen, Koniuszewski, Filip, Augé‐Stock, Maximilian, Kramer, Georg, Scholze, Petra, Ernst, Margot

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Endogenous FGF21-signaling controls paradoxical obesity resistance of UCP1-deficient mice Autor Keipert, Susanne, Lutter, Dominik, Schroeder, Bjoern O., Brandt, Daniel, Ståhlman, Marcus, Schwarzmayr, Thomas, Graf, Elisabeth, Fuchs, Helmut, de Angelis, Martin Hrabe, Tschöp, Matthias H., Rozman, Jan, Jastroch, Martin

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Author Correction: Endogenous FGF21-signaling controls paradoxical obesity resistance of UCP1-deficient mice Autor Keipert, Susanne, Lutter, Dominik, Schroeder, Bjoern O., Brandt, Daniel, Ståhlman, Marcus, Schwarzmayr, Thomas, Graf, Elisabeth, Fuchs, Helmut, de Angelis, Martin Hrabe, Tschöp, Matthias H., Rozman, Jan, Jastroch, Martin

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A Homozygous Splice Site Mutation in SLC25A42, Encoding the Mitochondrial Transporter of Coenzyme A, Causes Metabolic Crises and Epileptic Encephalopathy Autor Iuso, Arcangela, Alhaddad, Bader, Weigel, Corina, Kotzaeridou, Urania, Mastantuono, Elisa, Schwarzmayr, Thomas, Graf, Elisabeth, Terrile, Caterina, Prokisch, Holger, Strom, Tim M., Hoffmann, Georg F., Meitinger, Thomas, Haack, Tobias B.

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Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotype Autor Auer-Grumbach, Michaela, Bode, Heiko, Pieber, Thomas R., Schabhüttl, Maria, Fischer, Dirk, Seidl, Rainer, Graf, Elisabeth, Wieland, Thomas, Schuh, Reinhard, Vacariu, Gerda, Grill, Franz, Timmerman, Vincent, Strom, Tim M., Hornemann, Thorsten

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Nonsense Mutations in AAGAB Cause Punctate Palmoplantar Keratoderma Type Buschke-Fischer-Brauer Autor Giehl, Kathrin A., Eckstein, Gertrud N., Pasternack, Sandra M., Praetzel-Wunder, Silke, Ruzicka, Thomas, Lichtner, Peter, Seidl, Kerstin, Rogers, Mike, Graf, Elisabeth, Langbein, Lutz, Braun-Falco, Markus, Betz, Regina C., Strom, Tim M.

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DHTKD1 Mutations Cause 2-Aminoadipic and 2-Oxoadipic Aciduria Autor Danhauser, Katharina, Sauer, Sven W., Haack, Tobias B., Wieland, Thomas, Staufner, Christian, Graf, Elisabeth, Zschocke, Johannes, Strom, Tim M., Traub, Thorsten, Okun, Jürgen G., Meitinger, Thomas, Hoffmann, Georg F., Prokisch, Holger, Kölker, Stefan

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Adaptor Protein Complex 4 Deficiency Causes Severe Autosomal-Recessive Intellectual Disability, Progressive Spastic Paraplegia, Shy Character, and Short Stature Autor Abou Jamra, Rami, Philippe, Orianne, Raas-Rothschild, Annick, Eck, Sebastian H., Graf, Elisabeth, Buchert, Rebecca, Borck, Guntram, Ekici, Arif, Brockschmidt, Felix F., Nöthen, Markus M., Munnich, Arnold, Strom, Tim M., Reis, Andre, Colleaux, Laurence

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Multi-omics profiling identifies a deregulated FUS-MAP1B axis in ALS/FTD–associated UBQLN2 mutants Autor Strohm, Laura, Hu, Zehan, Suk, Yongwon, Rühmkorf, Alina, Sternburg, Erin, Gattringer, Vanessa, Riemenschneider, Henrick, Berutti, Riccardo, Graf, Elisabeth, Weishaupt, Jochen H, Brill, Monika S, Harbauer, Angelika B, Dormann, Dorothee, Dengjel, Jörn, Edbauer, Dieter, Behrends, Christian

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Exome Sequencing Identifies a REEP1 Mutation Involved in Distal Hereditary Motor Neuropathy Type V Autor Beetz, Christian, Pieber, Thomas R., Hertel, Nicole, Schabhüttl, Maria, Fischer, Carina, Trajanoski, Slave, Graf, Elisabeth, Keiner, Silke, Kurth, Ingo, Wieland, Thomas, Varga, Rita-Eva, Timmerman, Vincent, Reilly, Mary M., Strom, Tim M., Auer-Grumbach, Michaela

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Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome Autor Haack, Tobias B., Makowski, Christine, Yao, Yoshiaki, Graf, Elisabeth, Hempel, Maja, Wieland, Thomas, Tauer, Ulrike, Ahting, Uwe, Mayr, Johannes A., Freisinger, Peter, Yoshimatsu, Hiroki, Inui, Ken, Strom, Tim M., Meitinger, Thomas, Yonezawa, Atsushi, Prokisch, Holger

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Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy Autor Winkelmann, Juliane, Lin, Ling, Schormair, Barbara, Kornum, Birgitte R., Faraco, Juliette, Plazzi, Giuseppe, Melberg, Atle, Cornelio, Ferdinando, Urban, Alexander E., Pizza, Fabio, Poli, Francesca, Grubert, Fabian, Wieland, Thomas, Graf, Elisabeth, Hallmayer, Joachim, Strom, Tim M., Mignot, Emmanuel

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An atlas of the aging lung mapped by single cell transcriptomics and deep tissue proteomics Autor Angelidis, Ilias, Simon, Lukas M., Fernandez, Isis E., Strunz, Maximilian, Mayr, Christoph H., Greiffo, Flavia R., Tsitsiridis, George, Ansari, Meshal, Graf, Elisabeth, Strom, Tim-Matthias, Nagendran, Monica, Desai, Tushar, Eickelberg, Oliver, Mann, Matthias, Theis, Fabian J., Schiller, Herbert B.

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Intermuscular adipose tissue directly modulates skeletal muscle insulin sensitivity in humans Autor Sachs, Stephan, Zarini, Simona, Kahn, Darcy E., Harrison, Kathleen A., Perreault, Leigh, Phang, Tzu, Newsom, Sean A., Strauss, Allison, Kerege, Anna, Schoen, Jonathan A., Bessesen, Daniel H., Schwarzmayr, Thomas, Graf, Elisabeth, Lutter, Dominik, Krumsiek, Jan, Hofmann, Susanna M., Bergman, Bryan C.

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Rare Variants in PLXNA4 and Parkinson’s Disease Autor Schulte, Eva C., Stahl, Immanuel, Czamara, Darina, Ellwanger, Daniel C., Eck, Sebastian, Graf, Elisabeth, Mollenhauer, Brit, Zimprich, Alexander, Lichtner, Peter, Haubenberger, Dietrich, Pirker, Walter, Brücke, Thomas, Bereznai, Benjamin, Molnar, Maria J., Peters, Annette, Gieger, Christian, Müller-Myhsok, Bertram, Trenkwalder, Claudia, Winkelmann, Juliane

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Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Réunion Island Autor Hadchouel, Alice, Wieland, Thomas, Griese, Matthias, Baruffini, Enrico, Lorenz-Depiereux, Bettina, Enaud, Laurent, Graf, Elisabeth, Dubus, Jean Christophe, Halioui-Louhaichi, Sonia, Coulomb, Aurore, Delacourt, Christophe, Eckstein, Gertrud, Zarbock, Ralf, Schwarzmayr, Thomas, Cartault, François, Meitinger, Thomas, Lodi, Tiziana, de Blic, Jacques, Strom, Tim M.

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