Publikationen von 0000-0003-2379-6286
(ORCID: 0000-0003-2379-6286)

Bölsterli, Bigna K. , Boltshauser, Eugen , Palmieri, Luigi , Spenger, Johannes , Brunner-Krainz, Michaela, Distelmaier, Felix, Freisinger, Peter , Geis, Tobias , Gropman, Andrea L. , Häberle, Johannes , Hentschel, Julia, Jeandidier, Bruno, Karall, Daniela , Keren, Boris, Klabunde-Cherwon, Annick, Konstantopoulou, Vassiliki, Kottke, Raimund , Lasorsa, Francesco M., Makowski, Christine, Mignot, Cyril, O’Gorman Tuura, Ruth, Porcelli, Vito, Santer, René, Sen, Kuntal, Steinbrücker, Katja, Syrbe, Steffen , Wagner, Matias, Ziegler, Andreas, Zöggeler, Thomas, Mayr, Johannes A. , Prokisch, Holger und Wortmann, Saskia B. (2022) Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier. Nutrients 14 (17), S. 3605. Volltext nicht vorhanden.

Kuechler, Alma, Czeschik, Johanna Christina, Graf, Elisabeth, Grasshoff, Ute, Hüffmeier, Ulrike, Busa, Tiffany, Beck-Woedl, Stefanie, Faivre, Laurence, Rivière, Jean-Baptiste, Bader, Ingrid, Koch, Johannes, Reis, André , Hehr, Ute, Rittinger, Olaf, Sperl, Wolfgang, Haack, Tobias B., Wieland, Thomas, Engels, Hartmut, Prokisch, Holger , Strom, Tim M., Lüdecke, Hermann-Josef und Wieczorek, Dagmar (2017) Bainbridge–Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition. European Journal of Human Genetics 25 (2), S. 183-191. Volltext nicht vorhanden.

Bellingrath, Julia-Sophia, Ochakovski, G. Alex, Seitz, Immanuel P., Kohl, Susanne , Zrenner, Eberhart, Hanig, Nicola, Prokisch, Holger , Weber, Bernhard H., Downes, Susan M., Ramsden, Simon, MacLaren, Robert E. und Fischer, M. Dominik (2017) High Symmetry of Visual Acuity and Visual Fields in RPGR-Linked Retinitis Pigmentosa. Investigative Opthalmology & Visual Science 58 (11), S. 4457. Volltext nicht vorhanden.

Ellinghaus, David, Baurecht, Hansjörg , Esparza-Gordillo, Jorge, Rodríguez, Elke, Matanovic, Anja, Marenholz, Ingo, Hübner, Norbert, Schaarschmidt, Heidi, Novak, Natalija, Michel, Sven, Maintz, Laura, Werfel, Thomas, Meyer-Hoffert, Ulf, Hotze, Melanie, Prokisch, Holger , Heim, Katharina, Herder, Christian, Hirota, Tomomitsu, Tamari, Mayumi, Kubo, Michiaki, Takahashi, Atsushi, Nakamura, Yusuke, Tsoi, Lam C , Stuart, Philip, Elder, James T, Sun, Liangdan, Zuo, Xianbo, Yang, Sen, Zhang, Xuejun, Hoffmann, Per, Nöthen, Markus M, Fölster-Holst, Regina, Winkelmann, Juliane , Illig, Thomas, Boehm, Bernhard O, Duerr, Richard H , Büning, Carsten, Brand, Stephan, Glas, Jürgen, McAleer, Maeve A, Fahy, Caoimhe M, Kabesch, Michael, Brown, Sara , McLean, W H Irwin , Irvine, Alan D , Schreiber, Stefan , Lee, Young-Ae, Franke, Andre und Weidinger, Stephan (2013) High-density genotyping study identifies four new susceptibility loci for atopic dermatitis. Nature Genetics 45 (7), S. 808-812. Volltext nicht vorhanden.

Hartig, Monika B., Iuso, Arcangela, Haack, Tobias, Kmiec, Tomasz , Jurkiewicz, Elzbieta , Heim, Katharina, Roeber, Sigrun, Tarabin, Victoria, Dusi, Sabrina , Krajewska-Walasek, Malgorzata , Jozwiak, Sergiusz , Hempel, Maja, Winkelmann, Juliane , Elstner, Matthias, Oexle, Konrad, Klopstock, Thomas, Mueller-Felber, Wolfgang, Gasser, Thomas, Trenkwalder, Claudia, Tiranti, Valeria , Kretzschmar, Hans, Schmitz, Gerd , Strom, Tim M., Meitinger, Thomas und Prokisch, Holger (2011) Absence of an Orphan Mitochondrial Protein, C19orf12, Causes a Distinct Clinical Subtype of Neurodegeneration with Brain Iron Accumulation. The American Journal of Human Genetics 89 (4), S. 543-550. Volltext nicht vorhanden.

Linsel-Nitschke, Patrick, Heeren, Jörg, Aherrahrou, Zouhair, Bruse, Petra, Gieger, Christian , Illig, Thomas, Prokisch, Holger , Heim, Katharina, Doering, Angela, Peters, Annette , Meitinger, Thomas , Wichmann, H.-Erich, Hinney, Anke , Reinehr, Thomas, Roth, Christian, Ortlepp, Jan. R., Soufi, Mouhidien, Sattler, Alexander M., Schaefer, Jürgen, Stark, Klaus , Hengstenberg, Christian, Schaefer, Arne, Schreiber, Stefan , Kronenberg, Florian , Samani, Nilesh J., Schunkert, Heribert und Erdmann, Jeanette (2010) Genetic variation at chromosome 1p13.3 affects sortilin mRNA expression, cellular LDL-uptake and serum LDL levels which translates to the risk of coronary artery disease. Atherosclerosis 208 (1), S. 183-189. Volltext nicht vorhanden.

Soranzo, Nicole , Spector, Tim D., Mangino, Massimo, Kühnel, Brigitte, Rendon, Augusto , Teumer, Alexander, Willenborg, Christina , Wright, Benjamin, Chen, Li, Li, Mingyao, Salo, Perttu, Voight, Benjamin F., Burns, Philippa, Laskowski, Roman A. , Xue, Yali, Menzel, Stephan , Altshuler, David , Bradley, John R. , Bumpstead, Suzannah, Burnett, Mary-Susan, Devaney, Joseph, Döring, Angela, Elosua, Roberto, Epstein, Stephen E., Erber, Wendy , Falchi, Mario , Garner, Stephen F., Ghori, Mohammed J. R., Goodall, Alison H. , Gwilliam, Rhian, Hakonarson, Hakon H., Hall, Alistair S. , Hammond, Naomi, Hengstenberg, Christian, Illig, Thomas, König, Inke R., Knouff, Christopher W., McPherson, Ruth, Melander, Olle, Mooser, Vincent, Nauck, Matthias, Nieminen, Markku S., O'Donnell, Christopher J., Peltonen, Leena, Potter, Simon C., Prokisch, Holger , Rader, Daniel J., Rice, Catherine M., Roberts, Robert, Salomaa, Veikko, Sambrook, Jennifer, Schreiber, Stefan , Schunkert, Heribert, Schwartz, Stephen M., Serbanovic-Canic, Jovana , Sinisalo, Juha , Siscovick, David S., Stark, Klaus , Surakka, Ida, Stephens, Jonathan, Thompson, John R., Völker, Uwe, Völzke, Henry, Watkins, Nicholas A., Wells, George A. , Wichmann, H.-Erich, Van Heel, David A., Tyler-Smith, Chris, Thein, Swee Lay, Kathiresan, Sekar, Perola, Markus , Reilly, Muredach P. , Stewart, Alexandre F. R. , Erdmann, Jeanette , Samani, Nilesh J., Meisinger, Christa , Greinacher, Andreas, Deloukas, Panos , Ouwehand, Willem H. und Gieger, Christian (2009) A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. Nature Genetics 41 (11), S. 1182-1190. Volltext nicht vorhanden.