Search Results - Staufner, Christian

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  1. 1
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    Paediatric acute liver failure: A prospective, nationwide, population-based surveillance study in Germany by Lenz, Dominic (Author) , Abdulaziz, Muhammad (Author) , Peters, Bianca (Author) , Wagner, Matias (Author) , Schlieben, Lea D. (Author) , Corman, Victor M. (Author) , Baumann, Ulrich (Author) , Bufler, Philip (Author) , Dattner, Tal (Author) , Ganschow, Rainer (Author) , Genzel, Kristin (Author) , Hammann, Nicole Irene (Author) , Hartleif, Steffen (Author) , Hegen, Bianca (Author) , Henning, Stephan (Author) , Hoerning, André (Author) , Jankofsky, Martin (Author) , Junge, Norman (Author) , Kathemann, Simone (Author) , Knoppke, Birgit (Author) , Kohl-Sobania, Martina (Author) , Laass, Martin (Author) , Lainka, Elke (Author) , Lurz, Eberhard (Author) , Melter, Michael (Author) , Müller, Hanna (Author) , Pilic, Denisa (Author) , Ries, Markus (Author) , Schiefele, Lisa (Author) , Schwerd, Tobias (Author) , Sturm, Ekkehard (Author) , Wegner, Mechtild (Author) , Urschitz, Michael S. (Author) , Garbade, Sven (Author) , Wenning, Daniel (Author) , Drosten, Christian (Author) , Fichtner, Alexander (Author) , Kölker, Stefan (Author) , Hoffmann, Georg F. (Author) , Prokisch, Holger (Author) , Staufner, Christian (Author) ,


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  2. 2
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    Hepatic form of Dihydrolipoamide Dehydrogenase Deficiency (DLDD): phenotypic spectrum, laboratory findings, and therapeutic approaches in 52 patients by Hammann, Nicole Irene (Author) , Staufner, Christian (Author) , Schlieben, Lea Dewi (Author) , Dezsőfi-Gottl, Antal (Author) , Feichtinger, René G. (Author) , Häberle, Johannes (Author) , Junge, Norman (Author) , Konstantopoulou, Vassiliki (Author) , Kopajtich, Robert (Author) , McLin, Valérie (Author) , Rymen, Daisy (Author) , Slavetinsky, Christoph (Author) , Sturm, Ekkehard (Author) , Mayr, Johannes A. (Author) , Wagner, Matias (Author) , Kölker, Stefan (Author) , Prokisch, Holger (Author) , Hoffmann, Georg F. (Author) , Lenz, Dominic (Author) ,


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  3. 3
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    Reply: The race against time in genetic testing for PALF by Lenz, Dominic (Author) , Schlieben, Lea D. (Author) , Staufner, Christian (Author) , Prokisch, Holger (Author) ,


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  4. 4
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    Hepatic phenotype in NBAS-associated disease: clinical course, prognostic factors and outcome in 230 patients by Peters, Bianca (Author) , Schlieben, Lea Dewi (Author) , Brennenstuhl, Heiko (Author) , Arikan, Cigdem (Author) , Bedoyan, Sarah M. (Author) , Bulut, Fatma Derya (Author) , Crushell, Ellen (Author) , Dionisi-Vici, Carlo (Author) , Drab, Ada (Author) , Fichtner, Alexander (Author) , Garcia, Aixa Gonzalez (Author) , Fry, Deanna (Author) , Garbade, Sven (Author) , Hammann, Nicole Irene (Author) , Hadzic, Nedim (Author) , Hegarty, Robert (Author) , Jørgensen, Marianne Hørby (Author) , Laaß, Martin (Author) , Lainka, Elke (Author) , Leghlam, Lina (Author) , Lurz, Eberhard (Author) , Mungan, Halise Neslihan Önenli (Author) , Pietrobattista, Andrea (Author) , Polo, Begona (Author) , Socha, Piotr (Author) , Squires, James E. (Author) , Sun, Tian (Author) , Vogel, Georg F. (Author) , Prokisch, Holger (Author) , Kölker, Stefan (Author) , Hoffmann, Georg F. (Author) , Staufner, Christian (Author) , Lenz, Dominic (Author) ,


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  5. 5
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    SCYL1 deficiency in CALFAN syndrome is associated with ER stress and cell death by Hellicar, John (Author) , Dattner, Tal (Author) , Sun, Tian (Author) , Percival, Lily (Author) , Chrisp, Ruby (Author) , Pietrobattista, Andrea (Author) , Witkos, Tomasz (Author) , Mironov, Aleksander (Author) , Leghlam, Lina (Author) , Jentsch, Carolin (Author) , Kölker, Stefan (Author) , Hoffmann, Georg F. (Author) , Staufner, Christian (Author) , Hong, Wanjin (Author) , Lenz, Dominic (Author) , Lowe, Martin (Author) ,


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  6. 6
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    De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke by Brunet, Theresa (Author) , Zott, Benedikt (Author) , Lieftüchter, Victoria (Author) , Lenz, Dominic (Author) , Schmidt, Axel (Author) , Peters, Philipp (Author) , Kopajtich, Robert (Author) , Zaddach, Malin (Author) , Zimmermann, Hanna (Author) , Hüning, Irina (Author) , Ballhausen, Diana (Author) , Staufner, Christian (Author) , Bianzano, Alyssa (Author) , Hughes, Joanne (Author) , Taylor, Robert W. (Author) , McFarland, Robert (Author) , Devlin, Anita (Author) , Mihaljević, Mihaela (Author) , Barišić, Nina (Author) , Rohlfs, Meino (Author) , Wilfling, Sibylle (Author) , Sondheimer, Neal (Author) , Hewson, Stacy (Author) , Marinakis, Nikolaos M. (Author) , Kosma, Konstantina (Author) , Traeger-Synodinos, Joanne (Author) , Elbracht, Miriam (Author) , Begemann, Matthias (Author) , Trepels-Kottek, Sonja (Author) , Hasan, Dimah (Author) , Scala, Marcello (Author) , Capra, Valeria (Author) , Zara, Federico (Author) , van der Ven, Amelie T. (Author) , Driemeyer, Joenna (Author) , Apitz, Christian (Author) , Krämer, Johannes (Author) , Strong, Alanna (Author) , Hakonarson, Hakon (Author) , Watson, Deborah (Author) , Mayr, Johannes A. (Author) , Prokisch, Holger (Author) , Meitinger, Thomas (Author) , Borggraefe, Ingo (Author) , Spiegler, Juliane (Author) , Baric, Ivo (Author) , Paolini, Marco (Author) , Gerstl, Lucia (Author) , Wagner, Matias (Author) ,


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  7. 7
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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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  8. 8
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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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  9. 9
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    Disorders of vesicular trafficking presenting with recurrent acute liver failure: NBAS, RINT1, and SCYL1 deficiency by Peters, Bianca (Author) , Dattner, Tal (Author) , Schlieben, Lea D. (Author) , Sun, Tian (Author) , Staufner, Christian (Author) , Lenz, Dominic (Author) ,


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  10. 10
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    MRI in LARS1 deficiency: spectrum, patterns, and correlation with acute neurological deterioration by Hammann, Nicole Irene (Author) , Lenz, Dominic (Author) , Bianzano, Alyssa (Author) , Husain, Ralf A. (Author) , Forman, Eva (Author) , Bernstein, Jonathan A. (Author) , Dattner, Tal (Author) , Engelen, Marc (Author) , Hanson-Kahn, Andrea K. (Author) , Isidor, Bertrand (Author) , Kotzaeridou, Urania (Author) , Tietze, Anna (Author) , Trollmann, Regina (Author) , Weiß, Claudia (Author) , Wolffenbuttel, Bruce H. R. (Author) , Kölker, Stefan (Author) , Hoffmann, Georg F. (Author) , Crushell, Ellen (Author) , Staufner, Christian (Author) , Mohr, Alexander (Author) , Harting, Inga (Author) ,


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  11. 11
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    Simultaneous determination of cytosolic aminoacyl-tRNA synthetase activities by LC-MS/MS by Mendes, Marisa I. (Author) , Wolf, Nicole I (Author) , Rudinger-Thirion, Joëlle (Author) , Lenz, Dominic (Author) , Frugier, Magali (Author) , Verloo, Patrick (Author) , Mandel, Hanna (Author) , Manor, Joshua (Author) , Kassel, Rachel (Author) , Corpeleijn, Willemijn E (Author) , van der Rijt, Sanne (Author) , Schroor, Elsbeth M (Author) , van Dooren, Silvy J M (Author) , Staufner, Christian (Author) , Salomons, Gajja S (Author) , Smith, Desirée E C (Author) ,


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  12. 12
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    Evaluation of right ventricular function in patients with propionic acidemia: a cross-sectional study by Kovacevic, Alexander (Author) , Garbade, Sven (Author) , Hörster, Friederike (Author) , Hoffmann, Georg F. (Author) , Gorenflo, Matthias (Author) , Mereles, Derliz (Author) , Kölker, Stefan (Author) , Staufner, Christian (Author) ,


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  13. 13
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    aRgus: multilevel visualization of non-synonymous single nucleotide variants & advanced pathogenicity score modeling for genetic vulnerability assessment by Schröter, Julian (Author) , Dattner, Tal (Author) , Hüllein, Jennifer (Author) , Jayme, Alejandra (Author) , Heuveline, Vincent (Author) , Hoffmann, Georg F. (Author) , Kölker, Stefan (Author) , Lenz, Dominic (Author) , Opladen, Thomas (Author) , Popp, Bernt (Author) , Schaaf, Christian P. (Author) , Staufner, Christian (Author) , Syrbe, Steffen (Author) , Uhrig, Sebastian (Author) , Hübschmann, Daniel (Author) , Brennenstuhl, Heiko (Author) ,


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  14. 14
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    Management, vaccination status and COVID-19 morbidity of patients with Gaucher disease in Germany during the COVID-19 pandemic = Behandlung, Impfstatus und COVID-19-Morbidität von... by Niederau, Claus (Author) , Regenbogen, Claudia (Author) , Fruehauf, Hans-Martin (Author) , Merkel, Martin (Author) , Ziagaki, Athanasia (Author) , Mengel, Eugen (Author) , Baerwald, Christoph (Author) , Muschol, Nicole (Author) , Staufner, Christian (Author) , Lampe, Christina (Author) , Gillessen, Anton (Author) , Koehler, Jan Philipp (Author) , Vom Dahl, Stephan (Author) ,


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  15. 15
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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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  16. 16
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    Etiology and outcome of adult and pediatric acute liver failure in Europe by Lenz, Dominic (Author) , Hørby Jørgensen, Marianne (Author) , Kelly, Deirdre (Author) , Cardinale, Vincenzo (Author) , Geerts, Anja (Author) , Gonçalves Costa, Isabel (Author) , Fichtner, Alexander (Author) , Garbade, Sven (Author) , Hegen, Bianca (Author) , Hilberath, Johannes (Author) , de Kleine, Ruben (Author) , Kupčinskas, Limas (Author) , McLin, Valérie (Author) , Niesert, Moritz (Author) , Prado Gonzalez, Veronica (Author) , Sturm, Ekkehard (Author) , Staufner, Christian (Author) , Tjwa, Eric (Author) , Willemse, José (Author) , Zecher, Britta F. (Author) , Larsen, Fin Stolze (Author) , Sebode, Marcial (Author) , Ytting, Henriette (Author) ,


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  17. 17
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    Proceedings of the European Society for Pediatric Gastroenterology, Hepatology and Nutrition monothematic conference, 2020: "Acute liver failure in children": treatment and directi... by Zellos, Aglaia (Author) , Debray, Dominique (Author) , Indolfi, Giuseppe (Author) , Czubkowski, Piotr (Author) , Samyn, Marianne (Author) , Hadzic, Nedim (Author) , Gupte, Girish (Author) , Fischler, Björn (Author) , Smets, Françoise (Author) , Clément de Cléty, Stéphan (Author) , Grenda, Ryszard (Author) , Mozer, Yael (Author) , Mancell, Sara (Author) , Jahnel, Jörg (Author) , Auzinger, Georg (Author) , Worth, Austen (Author) , Lisman, Ton (Author) , Staufner, Christian (Author) , Baumann, Ulrich (Author) , Dhawan, Anil (Author) , Alonso, Estelle (Author) , Squires, Robert H. (Author) , Verkade, Henkjan J. (Author) ,


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  18. 18
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    Proceedings of ESPGHAN monothematic conference 2020: "Acute liver failure in children": diagnosis and initial management by Zellos, Aglaia (Author) , Debray, Dominique (Author) , Indolfi, Giuseppe (Author) , Czubkowski, Piotr (Author) , Samyn, Marianne (Author) , Hadzic, Nedim (Author) , Gupte, Girish (Author) , Fischler, Björn (Author) , Smets, Françoise (Author) , de Cléty, Stéphan Clément (Author) , Grenda, Ryszard (Author) , Mozer, Yael (Author) , Mancell, Sara (Author) , Jahnel, Jörg (Author) , Auzinger, Georg (Author) , Worth, Austen (Author) , Lisman, Ton (Author) , Staufner, Christian (Author) , Baumann, Ulrich (Author) , Dhawan, Anil (Author) , Alonso, Estelle (Author) , Squires, Robert H. (Author) , Verkade, Henkjan J. (Author) ,


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  19. 19
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    Genotypic and phenotypic spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency by Götz, Maren (Author) , Schröter, Julian (Author) , Dattner, Tal (Author) , Brennenstuhl, Heiko (Author) , Lenz, Dominic (Author) , Opladen, Thomas (Author) , Hörster, Friederike (Author) , Okun, Jürgen G. (Author) , Hoffmann, Georg F. (Author) , Kölker, Stefan (Author) , Staufner, Christian (Author) ,


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  20. 20
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    Detection of early cardiac disease manifestation in propionic acidemia - results of a monocentric cross-sectional study by Kovacevic, Alexander (Author) , Garbade, Sven (Author) , Hörster, Friederike (Author) , Hoffmann, Georg F. (Author) , Gorenflo, Matthias (Author) , Mereles, Derliz (Author) , Kölker, Stefan (Author) , Staufner, Christian (Author) ,


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