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Luisa Averdunk

heinrich heine university

15H-index
45Paper Count
850Citation Count
Published Papers 18
Publication Date
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Bi-allelic WDHD1 variants cause microcephalic primordial dwarfism
errThe American Journal of Human Genetics
IF0
err2026-04-09
err0
errOAAI
errDebora Tibbe; Marie Ronja Vogt; Tess Holling; Lea Dewi Schlieben; Fanny Kortüm; Moneef Shoukier; Christoph Bagowski; Felix Distelmaier; Luisa Averdunk; Alexej Knaus; Peter Krawitz; Alma Kuechler; Elke Lainka; Amelie Stalke; Sandra von Hardenberg; Bernd Auber; Eva-Doreen Pfister; Bruno Reversade; Anthony Sabbagh; Aida M. Bertoli-Avella
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Tyrosine supplementation with high-protein diet as a therapeutic strategy for YARS1 deficiency
errGenetics in Medicine
IF6.2
err2026-01-07
err0
errOAAI
errLuisa Averdunk; Karin Konzett; Hanna Mandel; Tobias Linden; Julien Neveu; Pierre Rohrlich; Melanie Herrmann; Thomas Lücke; Sabine Hoffjan; Pedro Arsenio Nunez Duran; Nadra Nasser Samra; Sabine Rudnik; Desiree E.C. Smith; Ertan Mayatepek; Gajja S. Salomons; Felix Distelmaier; Marisa I. Mendes
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Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings
errNature Genetics
IF0
err2025-06-24
err0
errOAAI
errAxel Schmidt; Magdalena Danyel; Kathrin Grundmann; Theresa Brunet; Hannah Klinkhammer; Tzung-Chien Hsieh; Hartmut Engels; Sophia Peters; Alexej Knaus; Shahida Moosa; Luisa Averdunk; Felix Boschann; Henrike Lisa Sczakiel; Sarina Schwartzmann; Martin Atta Mensah; Jean Tori Pantel; Manuel Holtgrewe; Annemarie Bösch; Claudia Weiß; Natalie Weinhold; Aude-Annick Suter; Corinna Stoltenburg; Julia Neugebauer; Tillmann Kallinich; Angela M. Kaindl; Susanne Holzhauer; Christoph Bührer; Philip Bufler; Uwe Kornak; Claus-Eric Ott; Markus Schülke; Hoa Huu Phuc Nguyen; Sabine Hoffjan; Corinna Grasemann; Tobias Rothoeft; Folke Brinkmann; Nora Matar; Sugirthan Sivalingam; Claudia Perne; Elisabeth Mangold; Martina Kreiss; Kirsten Cremer; Regina C. Betz; Martin Mücke; Lorenz Grigull; Thomas Klockgether; Isabel Spier; André Heimbach; Tim Bender; Fabian Brand; Christiane Stieber; Alexandra Marzena Morawiec; Pantelis Karakostas; Valentin S. Schäfer; Sarah Bernsen; Patrick Weydt; Sergio Castro-Gomez; Ahmad Aziz; Marcus Grobe-Einsler; Okka Kimmich; Xenia Kobeleva; Demet Önder; Hellen Lesmann; Sheetal Kumar; Pawel Tacik; Meghna Ahuja Bhasin; Pietro Incardona; Min Ae Lee-Kirsch; Reinhard Berner; Catharina Schuetz; Julia Körholz; Tanita Kretschmer; Nataliya Di Donato; Evelin Schröck; André Heinen; Ulrike Reuner; Amalia-Mihaela Hanßke; Frank J. Kaiser; Eva Manka; Martin Munteanu; Alma Kuechler; Kiewert Cordula; Raphael Hirtz; Elena Schlapakow; Christian Schlein; Jasmin Lisfeld; Christian Kubisch; Theresia Herget; Maja Hempel; Christina Weiler-Normann; Kurt Ullrich; Christoph Schramm; Cornelia Rudolph; Franziska Rillig; Maximilian Groffmann; Ania Muntau; Alexandra Tibelius; Eva M. C. Schwaibold; Christian P. Schaaf; Michal Zawada; Lilian Kaufmann; Katrin Hinderhofer; Pamela M. Okun; Urania Kotzaeridou; Georg F. Hoffmann; Daniela Choukair; Markus Bettendorf; Malte Spielmann; Annekatrin Ripke; Martje Pauly; Alexander Münchau; Katja Lohmann; Irina Hüning; Britta Hanker; Tobias Bäumer; Rebecca Herzog; Yorck Hellenbroich; Dominik S. Westphal; Tim Strom; Reka Kovacs; Korbinian M. Riedhammer; Katharina Mayerhanser; Elisabeth Graf; Melanie Brugger; Julia Hoefele; Konrad Oexle; Nazanin Mirza-Schreiber; Riccardo Berutti; Ulrich Schatz; Martin Krenn; Christine Makowski; Heike Weigand; Sebastian Schröder; Meino Rohlfs; Katharina Vill; Fabian Hauck; Ingo Borggraefe; Wolfgang Müller-Felber; Ingo Kurth; Miriam Elbracht; Cordula Knopp; Matthias Begemann; Florian Kraft; Johannes R. Lemke; Julia Hentschel; Konrad Platzer; Vincent Strehlow; Rami Abou Jamra; Martin Kehrer; German Demidov; Stefanie Beck-Wödl; Holm Graessner; Marc Sturm; Lena Zeltner; Ludger J. Schöls; Janine Magg; Andrea Bevot; Christiane Kehrer; Nadja Kaiser; Ernest Turro; Denise Horn; Annette Grüters-Kieslich; Christoph Klein; Stefan Mundlos; Markus Nöthen; Olaf Riess; Thomas Meitinger; Heiko Krude; Peter M. Krawitz; Tobias Haack; Nadja Ehmke; Matias Wagner
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DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2025-02-01
err0
errOAAI
errLessel, Ivana; Baresic, Anja; Chinn, Ivan K.; May, Jonathan; Goenka, Anu; Chandler, Kate E.; Posey, Jennifer E.; Afenjar, Alexandra; Averdunk, Luisa; Bedeschi, Maria Francesca; Besnard, Thomas; Brager, Rae; Brick, Lauren; Brugger, Melanie; Brunet, Theresa; Byrne, Susan; de la Calle-Martin, Oscar; Capra, Valeria; Cardenas, Paul; Chappe, Celine; Chong, Hey J.; Cogne, Benjamin; Conboy, Erin; Cope, Heidi; Courtin, Thomas; Deb, Wallid; Dilena, Robertino; Dubourg, Christele; Elgizouli, Magdeldin; Fernandes, Erica; Fitzgerald, Kristi K.; Gangi, Silvana; George-Abraham, Jaya K.; Gucsavas-Calikoglu, Muge; Haack, Tobias B.; Hadonou, Medard; Hanker, Britta; Huning, Irina; Iascone, Maria; Isidor, Bertrand; Jarvela, Irma; Jin, Jay J.; Jorge, Alexander A. L.; Josifova, Dragana; Kalinauskiene, Ruta; Kamsteeg, Erik-Jan; Keren, Boris; Kessler, Elena; Koelbel, Heike; Kozenko, Mariya; Kubisch, Christian; Kuechler, Alma; Leal, Suzanne M.; Leppala, Juha; Luu, Sharon M.; Lyon, Gholson J.; Madan-Khetarpal, Suneeta; Mancardi, Margherita; Marchi, Elaine; Mehta, Lakshmi; Menendez, Beatriz; Morel, Chantal F.; Harasink, Sue Moyer; Nevay, Dayna-Lynn; Nigro, Vincenzo; Odent, Sylvie; Oegema, Renske; Pappas, John; Pastore, Matthew T.; Perilla-Young, Yezmin; Platzer, Konrad; Powell-Hamilton, Nina; Rabin, Rachel; Rekab, Aisha; Rezende, Raissa C.; Robert, Leema; Romano, Ferruccio; Scala, Marcello; Poths, Karin; Schrauwen, Isabelle; Sebastian, Jessica; Short, John; Sidlow, Richard; Sullivan, Jennifer; Szakszon, Katalin; Tan, Queenie K. G.; Wagner, Matias; Wieczorek, Dagmar; Yuan, Bo; Maeding, Nicole; Strunk, Dirk; Begtrup, Amber; Banka, Siddharth; Lupski, James R.; Tolosa, Eva; Lessel, Davor
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Epg5 links proteotoxic stress due to defective autophagic clearance and epileptogenesis in Drosophila and Vici syndrome patients
errAUTOPHAGY
IF14.3
err2024-10-10
err1
errOAAI
errDeneubourg, Celine; Salimi Dafsari, Hormos; Lowe, Simon; Martinez-Cotrina, Aitana; Mazaud, David; Park, Seo Hyun; Vergani, Virginia; Almacellas Barbanoj, Amanda; Maroofian, Reza; Averdunk, Luisa; Ghayoor-Karimiani, Ehsan; Jayawant, Sandeep; Mignot, Cyril; Keren, Boris; Peters, Renate; Kamath, Arveen; Mattas, Lauren; Verma, Sumit; Silwal, Arpana; Distelmaier, Felix; Houlden, Henry; Lignani, Gabriele; Antebi, Adam; Jepson, James; Jungbluth, Heinz; Fanto, Manolis
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Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals (vol 3, 2024, 59)
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2024-07-26
err0
errOAAI
errLayo-Carris, Dana E.; Lubin, Emily E.; Sangree, Annabel K.; Clark, Kelly J.; Durham, Emily L.; Gonzalez, Elizabeth M.; Smith, Sarina; Angireddy, Rajesh; Wang, Xiao Min; Weiss, Erin; Toutain, Annick; Mendoza-Londono, Roberto; Dupuis, Lucie; Damseh, Nadirah; Velasco, Danita; Valenzuela, Irene; Codina-Sola, Marta; Ziats, Catherine; Have, Jaclyn; Clarkson, Katie; Steel, Dora; Kurian, Manju; Barwick, Katy; Carrasco, Diana; Dagli, Aditi I.; Nowaczyk, M. J. M.; Hancarova, Miroslava; Bendova, Sarka; Prchalova, Darina; Sedlacek, Zdenek; Baxova, Alica; Nowak, Catherine Bearce; Douglas, Jessica; Chung, Wendy K.; Longo, Nicola; Platzer, Konrad; Klockner, Chiara; Averdunk, Luisa; Wieczorek, Dagmar; Krey, Ilona; Zweier, Christiane; Reis, Andre; Balci, Tugce; Simon, Marleen; Kroes, Hester Y.; Wiesener, Antje; Vasileiou, Georgia; Marinakis, Nikolaos M.; Veltra, Danai; Sofocleous, Christalena; Kosma, Konstantina; Synodinos, Joanne Traeger; Voudris, Konstantinos A.; Vuillaume, Marie-Laure; Gueguen, Paul; Derive, Nicolas; Colin, Estelle; Battault, Clarisse; Au, Billie; Delatycki, Martin; Wallis, Mathew; Gallacher, Lyndon; Majdoub, Fatma; Smal, Noor; Weckhuysen, Sarah; Schoonjans, An-Sofie; Kooy, R. Frank; Meuwissen, Marije; Cocanougher, Benjamin T.; Taylor, Kathryn; Pizoli, Carolyn E.; Mcdonald, Marie T.; James, Philip; Roeder, Elizabeth R.; Littlejohn, Rebecca; Borja, Nicholas A.; Thorson, Willa; King, Kristine; Stoeva, Radka; Suerink, Manon; Nibbeling, Esther; Baskin, Stephanie; Guyader, Gwenael L. E.; Kaplan, Julie; Muss, Candace; Carere, Deanna Alexis; Bhoj, Elizabeth J. K.; Bryant, Laura M.
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Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2024-04-27
err3
errOAAI
errLayo-Carris, Dana E.; Lubin, Emily E.; Sangree, Annabel K.; Clark, Kelly J.; Durham, Emily L.; Gonzalez, Elizabeth M.; Smith, Sarina; Angireddy, Rajesh; Wang, Xiao Min; Weiss, Erin; Toutain, Annick; Mendoza-Londono, Roberto; Dupuis, Lucie; Damseh, Nadirah; Velasco, Danita; Valenzuela, Irene; Codina-Sola, Marta; Ziats, Catherine; Have, Jaclyn; Clarkson, Katie; Steel, Dora; Kurian, Manju; Barwick, Katy; Carrasco, Diana; Dagli, Aditi I.; Nowaczyk, M. J. M.; Hancarova, Miroslava; Bendova, Sarka; Prchalova, Darina; Sedlacek, Zdenek; Baxova, Alica; Nowak, Catherine Bearce; Douglas, Jessica; Chung, Wendy K.; Longo, Nicola; Platzer, Konrad; Kloeckner, Chiara; Averdunk, Luisa; Wieczorek, Dagmar; Krey, Ilona; Zweier, Christiane; Reis, Andre; Balci, Tugce; Simon, Marleen; Kroes, Hester Y.; Wiesener, Antje; Vasileiou, Georgia; Marinakis, Nikolaos M.; Veltra, Danai; Sofocleous, Christalena; Kosma, Konstantina; Synodinos, Joanne Traeger; Voudris, Konstantinos A.; Vuillaume, Marie-Laure; Gueguen, Paul; Derive, Nicolas; Colin, Estelle; Battault, Clarisse; Au, Billie; Delatycki, Martin; Wallis, Mathew; Gallacher, Lyndon; Majdoub, Fatma; Smal, Noor; Weckhuysen, Sarah; Schoonjans, An-Sofie; Kooy, R. Frank; Meuwissen, Marije; Cocanougher, Benjamin T.; Taylor, Kathryn; Pizoli, Carolyn E.; McDonald, Marie T.; James, Philip; Roeder, Elizabeth R.; Littlejohn, Rebecca; Borja, Nicholas A.; Thorson, Willa; King, Kristine; Stoeva, Radka; Suerink, Manon; Nibbeling, Esther; Baskin, Stephanie; Guyader, Gwenael L. E.; Kaplan, Julie; Muss, Candace; Carere, Deanna Alexis; Bhoj, Elizabeth J. K.; Bryant, Laura M.
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Biallelic variants in CRIPT cause a Rothmund- Thomson-like syndrome with increased cellular senescence
errGENETICS IN MEDICINE
IF6.2
err2023-07-01
err3
errOAAI
errAverdunk, Luisa; Huetzen, Maxim A.; Moreno-Andres, Daniel; Kalb, Reinhard; McKee, Shane; Hsieh, Tzung-Chien; Seibt, Annette; Schouwink, Marten; Lalani, Seema; Faqeih, Eissa Ali; Brunet, Theresa; Boor, Peter; Neveling, Kornelia; Hoischen, Alexander; Hildebrandt, Barbara; Graf, Elisabeth; Lu, Linchao; Jin, Weidong; Schaper, Joerg; Omer, Jamal A.; Demaret, Tanguy; Fleischer, Nicole; Schindler, Detlev; Krawitz, Peter; Mayatepek, Ertan; Wieczorek, Dagmar; Wang, Lisa L.; Antonin, Wolfram; Jachimowicz, Ron D.; von Felbert, Verena; Distelmaier, Felix
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De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhood
errGENETICS IN MEDICINE
IF6.2
err2023-07-01
err4
errOAAI
errReijnders, Margot R. F.; Seibt, Annette; Brugger, Melanie; Lamers, Ideke J. C.; Ott, Torsten; Klaas, Oliver; Horvath, Judit; Rose, Ailsa M. S.; Craghill, Isabel M.; Brunet, Theresa; Graf, Elisabeth; Mayerhanser, Katharina; Hellebrekers, Debby; Pauck, David; Neuen-Jacob, Eva; Rodenburg, Richard J. T.; Wieczorek, Dagmar; Klee, Dirk; Mayatepek, Ertan; Driessen, Gertjan; Bindermann, Robert; Averdunk, Luisa; Lohmeier, Klaus; Sinnema, Margje; Stegmann, Alexander P. A.; Roepman, Ronald; Poulter, James A.; Distelmaier, Felix
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Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex
errJOURNAL OF MEDICAL GENETICS
IF3.7
err2021-11-05
err35
errOAAI
errFalb, Ruth J.; Mueller, Amelie J.; Klein, Wolfram; Grimmel, Mona; Grasshoff, Ute; Spranger, Stephanie; Stoebe, Petra; Gauck, Darja; Kuechler, Alma; Dikow, Nicola; Schwaibold, Eva M. C.; Schmidt, Christoph; Averdunk, Luisa; Buchert, Rebecca; Heinrich, Tilman; Prodan, Natalia; Park, Joohyun; Kehrer, Martin; Sturm, Marc; Kelemen, Olga; Hartmann, Silke; Horn, Denise; Emmerich, Dirk; Hirt, Nina; Neumann, Armin; Kristiansen, Glen; Gembruch, Ulrich; Haen, Susanne; Siebert, Reiner; Hentze, Sabine; Hoopmann, Markus; Ossowski, Stephan; Waldmueller, Stephan; Beck-Woedl, Stefanie; Glaeser, Dieter; Tekesin, Ismail; Distelmaier, Felix; Riess, Olaf; Kagan, Karl-Oliver; Dufke, Andreas; Haack, Tobias B.
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De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus
errBRAIN
IF11.7
err2021-08-11
err16
errOAAI
errGalosi, Serena; Edani, Ban H.; Martinelli, Simone; Hansikova, Hana; Eklund, Erik A.; Caputi, Caterina; Masuelli, Laura; Corsten-Janssen, Nicole; Srour, Myriam; Oegema, Renske; Bosch, Danielle G. M.; Ellis, Colin A.; Amlie-Wolf, Louise; Accogli, Andrea; Atallah, Isis; Averdunk, Luisa; Baranano, Kristin W.; Bei, Roberto; Bagnasco, Irene; Brusco, Alfredo; Demarest, Scott; Alaix, Anne-Sophie; Di Bonaventura, Carlo; Distelmaier, Felix; Elmslie, Frances; Gan-Or, Ziv; Good, Jean-Marc; Gripp, Karen; Kamsteeg, Erik-Jan; Macnamara, Ellen; Marcelis, Carlo; Mercier, Noelle; Peeden, Joseph; Pizzi, Simone; Pannone, Luca; Shinawi, Marwan; Toro, Camilo; Verbeek, Nienke E.; Venkateswaran, Sunita; Wheeler, Patricia G.; Zdrazilova, Lucie; Zhang, Rong; Zorzi, Giovanna; Guerrini, Renzo; Sessa, William C.; Lefeber, Dirk; Tartaglia, Marco; Hamdan, Fadi F.; Grabinska, Kariona A.; Leuzzi, Vincenzo
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TheMacrophage Migration Inhibitory Factor(MIF) Promoter Polymorphisms (rs3063368, rs755622) Predict Acute Kidney Injury and Death after Cardiac Surgery
errJOURNAL OF CLINICAL MEDICINE
IF2.9
err2020-09-11
err12
errOAAI
errAverdunk, Luisa; Bernhagen, Juergen; Fehnle, Karl; Surowy, Harald; Luedecke, Hermann-Josef; Mucha, Soeren; Meybohm, Patrick; Wieczorek, Dagmar; Leng, Lin; Marx, Gernot; Leaf, David E.; Zarbock, Alexander; Zacharowski, Kai; Bucala, Richard; Stoppe, Christian
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SLPI - a Biomarker of Acute Kidney Injury after Open and Endovascular Thoracoabdominal Aortic Aneurysm (TAAA) Repair
errSCIENTIFIC REPORTS
IF3.9
err2020-02-26
err21
errOAAI
errAverdunk, Luisa; Rueckbeil, Marcia, V; Zarbock, Alexander; Martin, Lukas; Marx, Gernot; Jalaie, Houman; Jacobs, Michael J.; Stoppe, Christian; Gombert, Alexander
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Secretory Leukocyte Protease Inhibitor (SLPI)-A Novel Predictive Biomarker of Acute Kidney Injury after Cardiac Surgery: A Prospective Observational Study
errJOURNAL OF CLINICAL MEDICINE
IF2.9
err2019-11-09
err20
errOAAI
errAverdunk, Luisa; Fitzner, Christina; Levkovich, Tatjana; Leaf, David E.; Sobotta, Michael; Vieten, Jil; Ochi, Akinobu; Moeckel, Gilbert; Marx, Gernot; Stoppe, Christian
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Soluble CD74 Reroutes MIF/CXCR4/AKT-Mediated Survival of Cardiac Myofibroblasts to Necroptosis
errJOURNAL OF THE AMERICAN HEART ASSOCIATION
IF5.3
err2018-09-04
err48
errOAAI
errSoppert, Josefin; Kraemer, Sandra; Beckers, Christian; Averdunk, Luisa; Moellmann, Julia; Denecke, Bernd; Goetzenich, Andreas; Marx, Gernot; Bernhagen, Juergen; Stoppe, Christian
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The protective role of macrophage migration inhibitory factor in acute kidney injury after cardiac surgery
errSCIENCE TRANSLATIONAL MEDICINE
IF14.6
err2018-05-16
err100
errOAAI
errStoppe, Christian; Averdunk, Luisa; Goetzenich, Andreas; Soppert, Josefin; Marlier, Arnaud; Kraemer, Sandra; Vieten, Jil; Coburn, Mark; Kowark, Ana; Kim, Bong-Song; Marx, Gernot; Rex, Steffen; Ochi, Akinobu; Leng, Lin; Moeckel, Gilbert; Linkermann, Andreas; El Bounkari, Omar; Zarbock, Alexander; Bernhagen, Jurgen; Djudjaj, Sonja; Bucala, Richard; Boor, Peter
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MIF-2/D-DT enhances proximal tubular cell regeneration through SLPI- and ATF4-dependent mechanisms
errAMERICAN JOURNAL OF PHYSIOLOGY-RENAL PHYSIOLOGY
IF3.4
err2017-09-01
err37
errOAAI
errOchi, Akinobu; Chen, Dong; Schulte, Wibke; Leng, Lin; Moeckel, Nickolas; Piecychna, Marta; Averdunk, Luisa; Stoppe, Christian; Bucala, Richard; Moeckel, Gilbert
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Interaction of MIF Family Proteins in Myocardial Ischemia/Reperfusion Damage and Their Influence on Clinical Outcome of Cardiac Surgery Patients
errANTIOXIDANTS & REDOX SIGNALING
IF6.1
err2015-10-10
err57
errOAAI
errStoppe, Christian; Rex, Steffen; Goetzenich, Andreas; Kraemer, Sandra; Emontzpohl, Christoph; Soppert, Josefin; Averdunk, Luisa; Sun, Yu; Rossaint, Rolf; Lue, Hongqi; Huang, Caleb; Song, Yan; Pantouris, Georgios; Lolis, Elias; Leng, Lin; Schulte, Wibke; Bucala, Richard; Weber, Christian; Bernhagen, Juergen
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Research Directions

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Co-authors
Cooperation Journals
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H-index: 168 · Papers: 957
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Markus M. Nöthen
H-index: 161 · Papers: 2.0K
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Christian Weber
H-index: 160 · Papers: 1.8K
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James R. Lupski
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Wendy K. Chung
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