Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches von Baquero-Montoya, C., Gil-Rodríguez, M.C., Braunholz, D., Teresa-Rodrigo, M.E., Obieglo, C., Gener, B., Schwarzmayr, T., Strom, T.M., Gómez-Puertas, P., Puisac, B., Gillessen-Kaesbach, G., Musio, A., Ramos, F.J., Kaiser, F.J., Pié, J.

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Endogenous FGF21-signaling controls paradoxical obesity resistance of UCP1-deficient mice von 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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Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency von Olsen, Rikke K.J., Koňaříková, Eliška, Giancaspero, Teresa A., Mosegaard, Signe, Boczonadi, Veronika, Mataković, Lavinija, Veauville-Merllié, Alice, Terrile, Caterina, Schwarzmayr, Thomas, Haack, Tobias B., Auranen, Mari, Leone, Piero, Galluccio, Michele, Imbard, Apolline, Gutierrez-Rios, Purificacion, Palmfeldt, Johan, Graf, Elisabeth, Vianey-Saban, Christine, Oppenheim, Marcus, Schiff, Manuel, Pichard, Samia, Rigal, Odile, Pyle, Angela, Chinnery, Patrick F., Konstantopoulou, Vassiliki, Möslinger, Dorothea, Feichtinger, René G., Talim, Beril, Topaloglu, Haluk, Coskun, Turgay, Gucer, Safak, Botta, Annalisa, Pegoraro, Elena, Malena, Adriana, Vergani, Lodovica, Mazzà, Daniela, Zollino, Marcella, Ghezzi, Daniele, Acquaviva, Cecile, Tyni, Tiina, Boneh, Avihu, Meitinger, Thomas, Strom, Tim M., Gregersen, Niels, Mayr, Johannes A., Horvath, Rita, Barile, Maria, Prokisch, Holger

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MAU2 and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia de Lange Syndrome von Parenti, Ilaria, Diab, Farah, Gil, Sara Ruiz, Mulugeta, Eskeatnaf, Casa, Valentina, Berutti, Riccardo, Brouwer, Rutger W.W., Dupé, Valerie, Eckhold, Juliane, Graf, Elisabeth, Puisac, Beatriz, Ramos, Feliciano, Schwarzmayr, Thomas, Gines, Macarena Moronta, van Staveren, Thomas, van IJcken, Wilfred F.J., Strom, Tim M., Pié, Juan, Watrin, Erwan, Kaiser, Frank J., Wendt, Kerstin S.

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Reproducibility of high-throughput mRNA and small RNA sequencing across laboratories von 't Hoen, Peter A C, Friedländer, Marc R, Almlöf, Jonas, Sammeth, Michael, Pulyakhina, Irina, Anvar, Seyed Yahya, Laros, Jeroen F J, Buermans, Henk P J, Karlberg, Olof, Brännvall, Mathias, den Dunnen, Johan T, van Ommen, Gert-Jan B, Gut, Ivo G, Guigó, Roderic, Estivill, Xavier, Syvänen, Ann-Christine, Dermitzakis, Emmanouil T, Lappalainen, Tuuli

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Tandem RNA chimeras contribute to transcriptome diversity in human population and are associated with intronic genetic variants von Greger, Liliana, Su, Jing, Rung, Johan, Ferreira, Pedro G, Lappalainen, Tuuli, Dermitzakis, Emmanouil T, Brazma, Alvis

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Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches von Baquero-Montoya, C, Gil-Rodríguez, M C, Braunholz, D, Teresa-Rodrigo, M E, Obieglo, C, Gener, B, Schwarzmayr, T, Strom, T M, Gómez-Puertas, P, Puisac, B, Gillessen-Kaesbach, G, Musio, A, Ramos, F J, Kaiser, F J, Pié, J

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Epstein–Barr virus reprograms human B lymphocytes immediately in the prelatent phase of infection von Mrozek-Gorska, Paulina, Buschle, Alexander, Pich, Dagmar, Schwarzmayr, Thomas, Fechtner, Ron, Scialdone, Antonio, Hammerschmidt, Wolfgang

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Characterization of circular RNAs in human, mouse and rat hearts von Werfel, Stanislas, Nothjunge, Stephan, Schwarzmayr, Thomas, Strom, Tim-Matthias, Meitinger, Thomas, Engelhardt, Stefan

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Genetic diagnosis of Mendelian disorders via RNA sequencing von Kremer, Laura S., Bader, Daniel M., Mertes, Christian, Kopajtich, Robert, Pichler, Garwin, Iuso, Arcangela, Haack, Tobias B., Graf, Elisabeth, Schwarzmayr, Thomas, Terrile, Caterina, Koňaříková, Eliška, Repp, Birgit, Kastenmüller, Gabi, Adamski, Jerzy, Lichtner, Peter, Leonhardt, Christoph, Funalot, Benoit, Donati, Alice, Tiranti, Valeria, Lombes, Anne, Jardel, Claude, Gläser, Dieter, Taylor, Robert W., Ghezzi, Daniele, Mayr, Johannes A., Rötig, Agnes, Freisinger, Peter, Distelmaier, Felix, Strom, Tim M., Meitinger, Thomas, Gagneur, Julien, Prokisch, Holger

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Standby efficiency and thermocline degradation of a packed bed thermal energy storage: An experimental study von Schwarzmayr, Paul, Birkelbach, Felix, Walter, Heimo, Hofmann, René

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Time‐ and compartment‐resolved proteome profiling of the extracellular niche in lung injury and repair von Schiller, Herbert B, Fernandez, Isis E, Burgstaller, Gerald, Schaab, Christoph, Scheltema, Richard A, Schwarzmayr, Thomas, Strom, Tim M, Eickelberg, Oliver, Mann, Matthias

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A gain-of-function mutation in the CLCN2 chloride channel gene causes primary aldosteronism von Fernandes-Rosa, Fabio L., Daniil, Georgios, Orozco, Ian J., Göppner, Corinna, El Zein, Rami, Jain, Vandana, Boulkroun, Sheerazed, Jeunemaitre, Xavier, Amar, Laurence, Lefebvre, Hervé, Schwarzmayr, Thomas, Strom, Tim M., Jentsch, Thomas J., Zennaro, Maria-Christina

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Exergy efficiency and thermocline degradation of a packed bed thermal energy storage in partial cycle operation: An experimental study von Schwarzmayr, Paul, Birkelbach, Felix, Walter, Heimo, Hofmann, René

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Long-term functional and structural preservation of precision-cut human myocardium under continuous electromechanical stimulation in vitro von Fischer, Carola, Milting, Hendrik, Fein, Evelyn, Reiser, Elisabeth, Lu, Kun, Seidel, Thomas, Schinner, Camilla, Schwarzmayr, Thomas, Schramm, Rene, Tomasi, Roland, Husse, Britta, Cao-Ehlker, Xiaochun, Pohl, Ulrich, Dendorfer, Andreas

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Intermuscular adipose tissue directly modulates skeletal muscle insulin sensitivity in humans von 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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Constitutive Activation of PKA Catalytic Subunit in Adrenal Cushing's Syndrome von Beuschlein, Felix, Fassnacht, Martin, Assié, Guillaume, Calebiro, Davide, Stratakis, Constantine A, Osswald, Andrea, Ronchi, Cristina L, Wieland, Thomas, Sbiera, Silviu, Faucz, Fabio R, Schaak, Katrin, Schmittfull, Anett, Schwarzmayr, Thomas, Barreau, Olivia, Vezzosi, Delphine, Rizk-Rabin, Marthe, Zabel, Ulrike, Szarek, Eva, Salpea, Paraskevi, Forlino, Antonella, Vetro, Annalisa, Zuffardi, Orsetta, Kisker, Caroline, Diener, Susanne, Meitinger, Thomas, Lohse, Martin J, Reincke, Martin, Bertherat, Jérome, Strom, Tim M, Allolio, Bruno

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Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension von Beuschlein, Felix, Boulkroun, Sheerazed, Osswald, Andrea, Wieland, Thomas, Nielsen, Hang N, Lichtenauer, Urs D, Penton, David, Schack, Vivien R, Amar, Laurence, Fischer, Evelyn, Walther, Anett, Tauber, Philipp, Schwarzmayr, Thomas, Diener, Susanne, Graf, Elisabeth, Allolio, Bruno, Samson-Couterie, Benoit, Benecke, Arndt, Quinkler, Marcus, Fallo, Francesco, Plouin, Pierre-Francois, Mantero, Franco, Meitinger, Thomas, Mulatero, Paolo, Jeunemaitre, Xavier, Warth, Richard, Vilsen, Bente, Zennaro, Maria-Christina, Strom, Tim M, Reincke, Martin

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Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study von Rauch, Anita, Prof, Wieczorek, Dagmar, MD, Graf, Elisabeth, MSc, Wieland, Thomas, MSc, Endele, Sabine, PhD, Schwarzmayr, Thomas, MSc, Albrecht, Beate, MD, Bartholdi, Deborah, MD, Beygo, Jasmin, MSc, Di Donato, Nataliya, MD, Dufke, Andreas, MD, Cremer, Kirsten, MD, Hempel, Maja, MD, Horn, Denise, MD, Hoyer, Juliane, MD, Joset, Pascal, PhD, Röpke, Albrecht, PhD, Moog, Ute, MD, Riess, Angelika, MD, Thiel, Christian T, MD, Tzschach, Andreas, MD, Wiesener, Antje, MD, Wohlleber, Eva, MD, Zweier, Christiane, MD, Ekici, Arif B, PhD, Zink, Alexander M, MSc, Rump, Andreas, PhD, Meisinger, Christa, MD, Grallert, Harald, PhD, Sticht, Heinrich, PhD, Schenck, Annette, PhD, Engels, Hartmut, PhD, Rappold, Gudrun, Prof, Schröck, Evelin, Prof, Wieacker, Peter, Prof, Riess, Olaf, Prof, Meitinger, Thomas, Prof, Reis, André, Prof, Strom, Tim M, Dr

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Experimental Investigation of the Heat Transfer between Finned Tubes and a Bubbling Fluidized Bed with Horizontal Sand Mass Flow von Thanheiser, Stefan, Haider, Markus, Schwarzmayr, Paul

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