Search Results - Distelmaier, Felix

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  1. 1
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    Genetic landscape of pediatric acute liver failure of indeterminate origin by Lenz, Dominic (Author) , Schlieben, Lea D. (Author) , Shimura, Masaru (Author) , Bianzano, Alyssa (Author) , Smirnov, Dmitrii (Author) , Kopajtich, Robert (Author) , Berutti, Riccardo (Author) , Adam, Rüdiger (Author) , Aldrian, Denise (Author) , Baric, Ivo (Author) , Baumann, Ulrich (Author) , Bozbulut, Neslihan E. (Author) , Brugger, Melanie (Author) , Brunet, Theresa (Author) , Bufler, Philip (Author) , Burnytė, Birutė (Author) , Calvo, Pier L. (Author) , Crushell, Ellen (Author) , Dalgiç, Buket (Author) , Das, Anibh M. (Author) , Dezsőfi, Antal (Author) , Distelmaier, Felix (Author) , Fichtner, Alexander (Author) , Freisinger, Peter (Author) , Garbade, Sven (Author) , Gaspar, Harald (Author) , Goujon, Louise (Author) , Hadzic, Nedim (Author) , Hartleif, Steffen (Author) , Hegen, Bianca (Author) , Hempel, Maja (Author) , Henning, Stephan (Author) , Hoerning, Andre (Author) , Houwen, Roderick (Author) , Hughes, Joanne (Author) , Iorio, Raffaele (Author) , Iwanicka-Pronicka, Katarzyna (Author) , Jankofsky, Martin (Author) , Junge, Norman (Author) , Kanavaki, Ino (Author) , Kansu, Aydan (Author) , Kaspar, Sonja (Author) , Kathemann, Simone (Author) , Kelly, Deidre (Author) , Kirsaçlioğlu, Ceyda T. (Author) , Knoppke, Birgit (Author) , Kohl, Martina (Author) , Kölbel, Heike (Author) , Kölker, Stefan (Author) , Konstantopoulou, Vassiliki (Author) , Krylova, Tatiana (Author) , Kuloğlu, Zarife (Author) , Kuster, Alice (Author) , Laass, Martin W. (Author) , Lainka, Elke (Author) , Lurz, Eberhard (Author) , Mandel, Hanna (Author) , Mayerhanser, Katharina (Author) , Mayr, Johannes A. (Author) , McKiernan, Patrick (Author) , McClean, Patricia (Author) , McLin, Valerie (Author) , Mention, Karine (Author) , Müller, Hanna (Author) , Pasquier, Laurent (Author) , Pavlov, Martin (Author) , Pechatnikova, Natalia (Author) , Peters, Bianca (Author) , Petković Ramadža, Danijela (Author) , Piekutowska-Abramczuk, Dorota (Author) , Pilic, Denisa (Author) , Rajwal, Sanjay (Author) , Rock, Nathalie (Author) , Roetig, Agnès (Author) , Santer, René (Author) , Schenk, Wilfried (Author) , Semenova, Natalia (Author) , Sokollik, Christiane (Author) , Sturm, Ekkehard (Author) , Taylor, Robert W. (Author) , Tschiedel, Eva (Author) , Urbonas, Vaidotas (Author) , Urreizti, Roser (Author) , Vermehren, Jan (Author) , Vockley, Jerry (Author) , Vogel, Georg-Friedrich (Author) , Wagner, Matias (Author) , van der Woerd, Wendy (Author) , Wortmann, Saskia B. (Author) , Zakharova, Ekaterina (Author) , Hoffmann, Georg F. (Author) , Meitinger, Thomas (Author) , Murayama, Kei (Author) , Staufner, Christian (Author) , Prokisch, Holger (Author) ,


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  2. 2
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    Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease by Hammann, Nicole Irene (Author) , Lenz, Dominic (Author) , Baric, Ivo (Author) , Crushell, Ellen (Author) , Vici, Carlo Dionisi (Author) , Distelmaier, Felix (Author) , Feillet, Francois (Author) , Freisinger, Peter (Author) , Hempel, Maja (Author) , Khoreva, Anna L. (Author) , Laass, Martin W. (Author) , Lacassie, Yves (Author) , Lainka, Elke (Author) , Larson-Nath, Catherine (Author) , Li, Zhongdie (Author) , Lipiński, Patryk (Author) , Lurz, Eberhard (Author) , Mégarbané, André (Author) , Nobre, Susana (Author) , Olivieri, Giorgia (Author) , Peters, Bianca (Author) , Prontera, Paolo (Author) , Schlieben, Lea D. (Author) , Seroogy, Christine M. (Author) , Sobacchi, Cristina (Author) , Suzuki, Shigeru (Author) , Tran, Christel (Author) , Vockley, Jerry (Author) , Wang, Jian-She (Author) , Wagner, Matias (Author) , Prokisch, Holger (Author) , Garbade, Sven (Author) , Kölker, Stefan (Author) , Hoffmann, Georg F. (Author) , Staufner, Christian (Author) ,


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  3. 3
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    Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants by Vogel, Georg (Author) , Mozer-Glassberg, Yael (Author) , Landau, Yuval E. (Author) , Schlieben, Lea D. (Author) , Prokisch, Holger (Author) , Feichtinger, René G. (Author) , Mayr, Johannes A. (Author) , Brennenstuhl, Heiko (Author) , Schröter, Julian (Author) , Pechlaner, Agnes (Author) , Alkuraya, Fowzan S. (Author) , Baker, Joshua J. (Author) , Barcia, Giulia (Author) , Baric, Ivo (Author) , Braverman, Nancy (Author) , Burnyte, Birute (Author) , Christodoulou, John (Author) , Ciara, Elzbieta (Author) , Coman, David (Author) , Das, Anibh M. (Author) , Darin, Niklas (Author) , Della Marina, Adela (Author) , Distelmaier, Felix (Author) , Eklund, Erik A. (Author) , Ersoy, Melike (Author) , Fang, Weiyan (Author) , Gaignard, Pauline (Author) , Ganetzky, Rebecca D. (Author) , Gonzales, Emmanuel (Author) , Howard, Caoimhe (Author) , Hughes, Joanne (Author) , Konstantopoulou, Vassiliki (Author) , Kose, Melis (Author) , Kerr, Marina (Author) , Khan, Aneal (Author) , Lenz, Dominic (Author) , McFarland, Robert (Author) , Margolis, Merav Gil (Author) , Morrison, Kevin (Author) , Müller, Thomas (Author) , Murayama, Kei (Author) , Nicastro, Emanuele (Author) , Pennisi, Alessandra (Author) , Peters, Heidi (Author) , Piekutowska-Abramczuk, Dorota (Author) , Rötig, Agnès (Author) , Santer, René (Author) , Scaglia, Fernando (Author) , Schiff, Manuel (Author) , Shagrani, Mohmmad (Author) , Sharrard, Mark (Author) , Soler-Alfonso, Claudia (Author) , Staufner, Christian (Author) , Storey, Imogen (Author) , Stormon, Michael (Author) , Taylor, Robert W. (Author) , Thorburn, David R. (Author) , Teles, Elisa Leao (Author) , Wang, Jian-She (Author) , Weghuber, Daniel (Author) , Wortmann, Saskia (Author) ,


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  4. 4
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    Ketogenic diet treatment of defects in the mitochondrial malate aspartate shuttle and pyruvate carrier by Bölsterli Heinzle, Bigna (Author) , Boltshauser, Eugen (Author) , Palmieri, Luigi (Author) , Spenger, Johannes (Author) , Brunner-Krainz, Michaela (Author) , Distelmaier, Felix (Author) , Freisinger, Peter (Author) , Geis, Tobias (Author) , Gropman, Andrea L. (Author) , Häberle, Johannes (Author) , Hentschel, Julia (Author) , Jeandidier, Bruno (Author) , Karall, Daniela (Author) , Keren, Boris (Author) , Klabunde-Cherwon, Annick (Author) , Konstantopoulou, Vassiliki (Author) , Kottke, Raimund (Author) , Lasorsa, Francesco M. (Author) , Makowski, Christine (Author) , Mignot, Cyril (Author) , O’Gorman Tuura, Ruth (Author) , Porcelli, Vito (Author) , Santer, René (Author) , Sen, Kuntal (Author) , Steinbrücker, Katja (Author) , Syrbe, Steffen (Author) , Wagner, Matias (Author) , Ziegler, Andreas (Author) , Zöggeler, Thomas (Author) , Mayr, Johannes A. (Author) , Prokisch, Holger (Author) , Wortmann, Saskia B. (Author) ,


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  5. 5
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    Clinical implementation of RNA sequencing for Mendelian disease diagnostics by Yépez, Vicente (Author) , Gusic, Mirjana (Author) , Kopajtich, Robert (Author) , Mertes, Christian (Author) , Smith, Nicholas H. (Author) , Alston, Charlotte L. (Author) , Ban, Rui (Author) , Beblo, Skadi (Author) , Berutti, Riccardo (Author) , Blessing, Holger (Author) , Ciara, Elzbieta (Author) , Distelmaier, Felix (Author) , Freisinger, Peter (Author) , Haeberle, Johannes (Author) , Hayflick, Susan J. (Author) , Hempel, Maja (Author) , Itkis, Yulia S. (Author) , Kishita, Yoshihito (Author) , Klopstock, Thomas (Author) , Krylova, Tatiana D. (Author) , Lamperti, Costanza (Author) , Lenz, Dominic (Author) , Makowski, Christine (Author) , Mosegaard, Signe (Author) , Mueller, Michaela F. (Author) , Munoz-Pujol, Gerard (Author) , Nadel, Agnieszka (Author) , Ohtake, Akira (Author) , Okazaki, Yasushi (Author) , Procopio, Elena (Author) , Schwarzmayr, Thomas (Author) , Smet, Joel (Author) , Staufner, Christian (Author) , Stenton, Sarah L. (Author) , Strom, Tim M. (Author) , Terrile, Caterina (Author) , Tort, Frederic (Author) , Van Coster, Rudy (Author) , Vanlander, Arnaud (Author) , Wagner, Matias (Author) , Xu, Manting (Author) , Fang, Fang (Author) , Ghezzi, Daniele (Author) , Mayr, Johannes A. (Author) , Piekutowska-Abramczuk, Dorota (Author) , Ribes, Antonia (Author) , Roetig, Agnes (Author) , Taylor, Robert W. (Author) , Wortmann, Saskia B. (Author) , Murayama, Kei (Author) , Meitinger, Thomas (Author) , Gagneur, Julien (Author) , Prokisch, Holger (Author) ,


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  6. 6
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    NBAS variants are associated with quantitative and ualitative NK and B Cell deficiency by Lenz, Dominic (Author) , Pahl, Jens (Author) , Hauck, Fabian (Author) , Alameer, Seham (Author) , Balasubramanian, Meena (Author) , Baric, Ivo (Author) , Boy, Nikolas (Author) , Church, Joseph A. (Author) , Crushell, Ellen (Author) , Dick, Anke (Author) , Distelmaier, Felix (Author) , Gujar, Jidnyasa (Author) , Indolfi, Giuseppe (Author) , Lurz, Eberhard (Author) , Peters, Bianca (Author) , Schwerd, Tobias (Author) , Serranti, Daniele (Author) , Kölker, Stefan (Author) , Klein, Christoph (Author) , Hoffmann, Georg F. (Author) , Prokisch, Holger (Author) , Greil, Johann (Author) , Cerwenka, Adelheid (Author) , Giese, Thomas (Author) , Staufner, Christian (Author) ,


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