检索结果 - Graf, Elisabeth

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

获取全文 获取全文 获取全文

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

获取全文 获取全文 获取全文

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

获取全文 获取全文 获取全文

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

获取全文 获取全文 获取全文

A de novo missense variant in GABRA4 alters receptor function in an epileptic and neurodevelopmental phenotype 由 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

获取全文 获取全文 获取全文

Endogenous FGF21-signaling controls paradoxical obesity resistance of UCP1-deficient mice 由 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

获取全文 获取全文 获取全文

Author Correction: Endogenous FGF21-signaling controls paradoxical obesity resistance of UCP1-deficient mice 由 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

获取全文 获取全文 获取全文

A Homozygous Splice Site Mutation in SLC25A42, Encoding the Mitochondrial Transporter of Coenzyme A, Causes Metabolic Crises and Epileptic Encephalopathy 由 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.

获取全文 获取全文 获取全文

Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotype 由 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

获取全文 获取全文 获取全文

Nonsense Mutations in AAGAB Cause Punctate Palmoplantar Keratoderma Type Buschke-Fischer-Brauer 由 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.

获取全文 获取全文 获取全文

DHTKD1 Mutations Cause 2-Aminoadipic and 2-Oxoadipic Aciduria 由 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

获取全文 获取全文 获取全文

Adaptor Protein Complex 4 Deficiency Causes Severe Autosomal-Recessive Intellectual Disability, Progressive Spastic Paraplegia, Shy Character, and Short Stature 由 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

获取全文 获取全文 获取全文

Multi-omics profiling identifies a deregulated FUS-MAP1B axis in ALS/FTD–associated UBQLN2 mutants 由 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

获取全文 获取全文 获取全文

Exome Sequencing Identifies a REEP1 Mutation Involved in Distal Hereditary Motor Neuropathy Type V 由 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

获取全文 获取全文 获取全文

Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome 由 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

获取全文 获取全文 获取全文

Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy 由 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

获取全文 获取全文 获取全文

An atlas of the aging lung mapped by single cell transcriptomics and deep tissue proteomics 由 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.

获取全文 获取全文 获取全文

Intermuscular adipose tissue directly modulates skeletal muscle insulin sensitivity in humans 由 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.

获取全文 获取全文 获取全文

Rare Variants in PLXNA4 and Parkinson’s Disease 由 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

获取全文 获取全文 获取全文

Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Réunion Island 由 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.

获取全文 获取全文 获取全文