Search Results - Prokisch, Holger

  • Showing 1 - 19 results of 19
Refine Results
  1. 1
    Cover Image

    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) ,


    Get full text
    Article (Journal) Online Resource


    Saved in:
  2. 2
    Cover Image

    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) ,


    Get full text
    Article (Journal) Online Resource


    Saved in:
  3. 3
    Cover Image

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


    Get full text
    Article (Journal) Editorial Online Resource


    Saved in:
  4. 4
    Cover Image

    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) ,


    Get full text
    Article (Journal) Online Resource


    Saved in:
  5. 5
    Cover Image

    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) ,


    Get full text
    Article (Journal) Online Resource


    Saved in:
  6. 6
    Cover Image

    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) ,


    Get full text
    Article (Journal) Online Resource


    Saved in:
  7. 7
    Cover Image

    Missense variants in the TRPM7 α-kinase domain are associated with recurrent pediatric acute liver failure by Schlieben, Lea D. (Author) , Achleitner, Melanie T. (Author) , Bourke, Billy (Author) , Diesner, Max (Author) , Feichtinger, René G. (Author) , Fichtner, Alexander (Author) , Flechtenmacher, Christa (Author) , Hadzic, Nedim (Author) , Hegarty, Robert (Author) , Heilos, Andreas (Author) , Janecke, Andreas (Author) , Konstantopoulou, Vassiliki (Author) , Lenz, Dominic (Author) , Mayr, Johannes A. (Author) , Müller, Thomas (Author) , Prokisch, Holger (Author) , Vogel, Georg (Author) ,


    Get full text
    Article (Journal) Online Resource


    Saved in:
  8. 8
    Cover Image

    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) ,


    Get full text
    Article (Journal) Online Resource


    Saved in:
  9. 9
    Cover Image

    Expanding the phenotypic and biochemical spectrum of NDUFAF3-related mitochondrial disease by Ven, Amelie T. van der (Author) , Cabrera-Orefice, Alfredo (Author) , Wente, Isabell (Author) , Feichtinger, René G. (Author) , Tsiakas, Konstantinos (Author) , Weiss, Deike (Author) , Bierhals, Tatjana (Author) , Scholle, Leila (Author) , Prokisch, Holger (Author) , Kopajtich, Robert (Author) , Santer, René (Author) , Mayr, Johannes A. (Author) , Hempel, Maja (Author) , Wittig, Ilka (Author) ,


    Get full text
    Article (Journal) Online Resource


    Saved in:
  10. 10
    Cover Image

    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) ,


    Get full text
    Article (Journal) Online Resource


    Saved in:
  11. 11
    Cover Image

    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) ,


    Get full text
    Article (Journal) Online Resource


    Saved in:
  12. 12
    Cover Image

    Oral coenzyme Q10 supplementation leads to better preservation of kidney function in steroid-resistant nephrotic syndrome due to primary Coenzyme Q10 deficiency by Drovandi, Stefania (Author) , Lipska-Ziętkiewicz, Beata S. (Author) , Ozaltin, Fatih (Author) , Emma, Francesco (Author) , Gulhan, Bora (Author) , Boyer, Olivia (Author) , Trautmann, Agnes (Author) , Xu, Hong (Author) , Shen, Qian (Author) , Rao, Jia (Author) , Riedhammer, Korbinian M. (Author) , Heemann, Uwe (Author) , Hoefele, Julia (Author) , Stenton, Sarah L. (Author) , Tsygin, Alexey N. (Author) , Ng, Kar-Hui (Author) , Fomina, Svitlana (Author) , Benetti, Elisa (Author) , Aurelle, Manon (Author) , Prikhodina, Larisa (Author) , Schreuder, Michiel F. (Author) , Tabatabaeifar, Mansoureh (Author) , Jankowski, Maciej (Author) , Baiko, Sergey (Author) , Mao, Jianhua (Author) , Feng, Chunyue (Author) , Liu, Cuihua (Author) , Sun, Shuzhen (Author) , Deng, Fang (Author) , Wang, Xiaowen (Author) , Clavé, Stéphanie (Author) , Stańczyk, Małgorzata (Author) , Bałasz-Chmielewska, Irena (Author) , Fila, Marc (Author) , Durkan, Anne M. (Author) , Levart, Tanja Kersnik (Author) , Dursun, Ismail (Author) , Esfandiar, Nasrin (Author) , Haas, Dorothea (Author) , Bjerre, Anna (Author) , Anarat, Ali (Author) , Benz, Marcus R. (Author) , Talebi, Saeed (Author) , Hooman, Nakysa (Author) , Ariceta, Gema (Author) , Serna Higuita, Lina Maria (Author) , Schaefer, Franz (Author) , Gheissari, Alaleh (Author) , Nigmatullina, Nazym (Author) , Tkaczyk, Marcin (Author) , Borzecka, Halina (Author) , Bogdanovic, Radovan (Author) , Mir, Sevgi (Author) , Klopstock, Thomas (Author) , Prokisch, Holger (Author) , Kornblum, Cornelia (Author) , Liu, Cui-Hua (Author) , Sun, Shu-Zhen (Author) , Dong, Yang (Author) , Wang, Xiao-Wen (Author) , Luan, Jiang-Wei (Author) ,


    Get full text
    Article (Journal) Online Resource


    Saved in:
  13. 13
    Cover Image

    Epigenome-wide association study of serum urate reveals insights into urate co-regulation and the SLC2A9 locus by Tin, Adrienne (Author) , Schlosser, Pascal (Author) , Matias-Garcia, Pamela R. (Author) , Thio, Chris H. L. (Author) , Joehanes, Roby (Author) , Liu, Hongbo (Author) , Yu, Zhi (Author) , Weihs, Antoine (Author) , Hoppmann, Anselm (Author) , Grundner-Culemann, Franziska (Author) , Min, Josine L. (Author) , Kuhns, Victoria L. Halperin (Author) , Adeyemo, Adebowale A. (Author) , Agyemang, Charles (Author) , Ärnlöv, Johan (Author) , Aziz, Nasir A. (Author) , Baccarelli, Andrea (Author) , Bochud, Murielle (Author) , Brenner, Hermann (Author) , Bressler, Jan (Author) , Breteler, Monique M. B. (Author) , Carmeli, Cristian (Author) , Chaker, Layal (Author) , Coresh, Josef (Author) , Corre, Tanguy (Author) , Correa, Adolfo (Author) , Cox, Simon R. (Author) , Delgado Gonzales de Kleber, Graciela (Author) , Eckardt, Kai-Uwe (Author) , Ekici, Arif B. (Author) , Endlich, Karlhans (Author) , Floyd, James S. (Author) , Fraszczyk, Eliza (Author) , Gao, Xu (Author) , Gao, Xin (Author) , Gelber, Allan C. (Author) , Ghanbari, Mohsen (Author) , Ghasemi, Sahar (Author) , Gieger, Christian (Author) , Greenland, Philip (Author) , Grove, Megan L. (Author) , Harris, Sarah E. (Author) , Hemani, Gibran (Author) , Henneman, Peter (Author) , Herder, Christian (Author) , Horvath, Steve (Author) , Hou, Lifang (Author) , Hurme, Mikko A. (Author) , Hwang, Shih-Jen (Author) , Kardia, Sharon L. R. (Author) , Kasela, Silva (Author) , Kleber, Marcus E. (Author) , Koenig, Wolfgang (Author) , Kooner, Jaspal S. (Author) , Kronenberg, Florian (Author) , Kühnel, Brigitte (Author) , Ladd-Acosta, Christine (Author) , Lehtimäki, Terho (Author) , Lind, Lars (Author) , Liu, Dan (Author) , Lloyd-Jones, Donald M. (Author) , Lorkowski, Stefan (Author) , Lu, Ake T. (Author) , Marioni, Riccardo E. (Author) , März, Winfried (Author) , McCartney, Daniel L. (Author) , Meeks, Karlijn A. C. (Author) , Milani, Lili (Author) , Mishra, Pashupati P. (Author) , Nauck, Matthias (Author) , Nowak, Christoph (Author) , Peters, Annette (Author) , Prokisch, Holger (Author) , Psaty, Bruce M. (Author) , Raitakari, Olli T. (Author) , Ratliff, Scott M. (Author) , Reiner, Alex P. (Author) , Schöttker, Ben (Author) , Schwartz, Joel (Author) , Sedaghat, Sanaz (Author) , Smith, Jennifer A. (Author) , Sotoodehnia, Nona (Author) , Stocker, Hannah (Author) , Stringhini, Silvia (Author) , Sundström, Johan (Author) , Swenson, Brenton R. (Author) , van Meurs, Joyce B. J. (Author) , van Vliet-Ostaptchouk, Jana V. (Author) , Venema, Andrea (Author) , Völker, Uwe (Author) , Winkelmann, Juliane (Author) , Wolffenbuttel, Bruce H. R. (Author) , Zhao, Wei (Author) , Zheng, Yinan (Author) , Loh, Marie (Author) , Snieder, Harold (Author) , Waldenberger, Melanie (Author) , Levy, Daniel (Author) , Akilesh, Shreeram (Author) , Woodward, Owen M. (Author) , Susztak, Katalin (Author) , Teumer, Alexander (Author) , Köttgen, Anna (Author) ,


    Get full text
    Article (Journal) Online Resource


    Saved in:
  14. 14
    Cover Image

    Meta-analyses identify DNA methylation associated with kidney function and damage by Schlosser, Pascal (Author) , Tin, Adrienne (Author) , Matias-Garcia, Pamela R. (Author) , Thio, Chris H. L. (Author) , Joehanes, Roby (Author) , Liu, Hongbo (Author) , Weihs, Antoine (Author) , Yu, Zhi (Author) , Hoppmann, Anselm (Author) , Grundner-Culemann, Franziska (Author) , Min, Josine L. (Author) , Adeyemo, Adebowale A. (Author) , Agyemang, Charles (Author) , Ärnlöv, Johan (Author) , Aziz, Nasir A. (Author) , Baccarelli, Andrea (Author) , Bochud, Murielle (Author) , Brenner, Hermann (Author) , Breteler, Monique M. B. (Author) , Carmeli, Cristian (Author) , Chaker, Layal (Author) , Chambers, John C. (Author) , Cole, Shelley A. (Author) , Coresh, Josef (Author) , Corre, Tanguy (Author) , Correa, Adolfo (Author) , Cox, Simon R. (Author) , de Klein, Niek (Author) , Delgado Gonzales de Kleber, Graciela (Author) , Domingo-Relloso, Arce (Author) , Eckardt, Kai-Uwe (Author) , Ekici, Arif B. (Author) , Endlich, Karlhans (Author) , Evans, Kathryn L. (Author) , Floyd, James S. (Author) , Fornage, Myriam (Author) , Franke, Lude (Author) , Fraszczyk, Eliza (Author) , Gao, Xu (Author) , Gao, Xin (Author) , Ghanbari, Mohsen (Author) , Ghasemi, Sahar (Author) , Gieger, Christian (Author) , Greenland, Philip (Author) , Grove, Megan L. (Author) , Harris, Sarah E. (Author) , Hemani, Gibran (Author) , Henneman, Peter (Author) , Herder, Christian (Author) , Horvath, Steve (Author) , Hou, Lifang (Author) , Hurme, Mikko A. (Author) , Hwang, Shih-Jen (Author) , Jarvelin, Marjo-Riitta (Author) , Kardia, Sharon L. R. (Author) , Kasela, Silva (Author) , Kleber, Marcus E. (Author) , Koenig, Wolfgang (Author) , Kooner, Jaspal S. (Author) , Kramer, Holly (Author) , Kronenberg, Florian (Author) , Kühnel, Brigitte (Author) , Lehtimäki, Terho (Author) , Lind, Lars (Author) , Liu, Dan (Author) , Liu, Yongmei (Author) , Lloyd-Jones, Donald M. (Author) , Lohman, Kurt (Author) , Lorkowski, Stefan (Author) , Lu, Ake T. (Author) , Marioni, Riccardo E. (Author) , März, Winfried (Author) , McCartney, Daniel L. (Author) , Meeks, Karlijn A. C. (Author) , Milani, Lili (Author) , Mishra, Pashupati P. (Author) , Nauck, Matthias (Author) , Navas-Acien, Ana (Author) , Nowak, Christoph (Author) , Peters, Annette (Author) , Prokisch, Holger (Author) , Psaty, Bruce M. (Author) , Raitakari, Olli T. (Author) , Ratliff, Scott M. (Author) , Reiner, Alex P. (Author) , Rosas, Sylvia E. (Author) , Schöttker, Ben (Author) , Schwartz, Joel (Author) , Sedaghat, Sanaz (Author) , Smith, Jennifer A. (Author) , Sotoodehnia, Nona (Author) , Stocker, Hannah (Author) , Stringhini, Silvia (Author) , Sundström, Johan (Author) , Swenson, Brenton R. (Author) , Tellez-Plaza, Maria (Author) , van Meurs, Joyce B. J. (Author) , van Vliet-Ostaptchouk, Jana V. (Author) , Venema, Andrea (Author) , Verweij, Niek (Author) , Walker, Rosie M. (Author) , Wielscher, Matthias (Author) , Winkelmann, Juliane (Author) , Wolffenbuttel, Bruce H. R. (Author) , Zhao, Wei (Author) , Zheng, Yinan (Author) , Loh, Marie (Author) , Snieder, Harold (Author) , Levy, Daniel (Author) , Waldenberger, Melanie (Author) , Susztak, Katalin (Author) , Köttgen, Anna (Author) , Teumer, Alexander (Author) ,


    Get full text
    Article (Journal) Online Resource


    Saved in:
  15. 15
    Cover Image

    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) ,


    Get full text
    Article (Journal) Online Resource


    Saved in:
  16. 16
    Cover Image

    Paroxysmal and non-paroxysmal dystonia in 3 patients with biallelic ECHS1 variants: expanding the neurological spectrum and therapeutic approaches by Illsinger, Sabine (Author) , Korenke, Christoph (Author) , Boesch, Sylvia (Author) , Nocker, Michael (Author) , Karall, Daniela (Author) , Nuoffer, Jean M. (Author) , Laugwitz, Lucia (Author) , Mayr, Johannes A. (Author) , Scholl-Bürgi, Sabine (Author) , Freisinger, Peter (Author) , Kowald, Tobias (Author) , Kölker, Stefan (Author) , Prokisch, Holger (Author) , Haack, Tobias B. (Author) ,


    Get full text
    Article (Journal) Online Resource


    Saved in:
  17. 17
    Cover Image

    RINT1 bi-allelic variations cause infantile-onset recurrent acute liver failure and skeletal abnormalities by Cousin, Margot (Author) , Conboy, Erin (Author) , Wang, Jian-She (Author) , Lenz, Dominic (Author) , Schwab, Tanya L. (Author) , Williams, Monique (Author) , Abraham, Roshini S. (Author) , Barnett, Sarah (Author) , El-Youssef, Mounif (Author) , Graham, Rondell P. (Author) , Gutierrez Sanchez, Luz Helena (Author) , Hasadsri, Linda (Author) , Hoffmann, Georg F. (Author) , Hull, Nathan C. (Author) , Kopajtich, Robert (Author) , Kovacs-Nagy, Reka (Author) , Li, Jia-qi (Author) , Marx-Berger, Daniela (Author) , McLin, Valérie (Author) , McNiven, Mark A. (Author) , Mounajjed, Taofic (Author) , Prokisch, Holger (Author) , Rymen, Daisy (Author) , Schulze, Ryan J. (Author) , Staufner, Christian (Author) , Yang, Ye (Author) , Clark, Karl J. (Author) , Lanpher, Brendan C. (Author) , Klee, Eric W. (Author) ,


    Get full text
    Article (Journal) Online Resource


    Saved in:
  18. 18
    Cover Image

    Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement by Haack, Tobias (Author) , Jackson, Christopher B. (Author) , Murayama, Kei (Author) , Kremer, Laura S. (Author) , Schaller, André (Author) , Kotzaeridou, Urania (Author) , Vries, Maaike C. de (Author) , Schottmann, Gudrun (Author) , Santra, Saikat (Author) , Büchner, Boriana (Author) , Wieland, Thomas (Author) , Graf, Elisabeth (Author) , Freisinger, Peter (Author) , Eggimann, Sandra (Author) , Ohtake, Akira (Author) , Okazaki, Yasushi (Author) , Kohda, Masakazu (Author) , Kishita, Yoshihito (Author) , Tokuzawa, Yoshimi (Author) , Sauer, Sascha (Author) , Memari, Yasin (Author) , Kolb‐Kokocinski, Anja (Author) , Durbin, Richard (Author) , Hasselmann, Oswald (Author) , Cremer, Kirsten (Author) , Albrecht, Beate (Author) , Wieczorek, Dagmar (Author) , Engels, Hartmut (Author) , Hahn, Dagmar (Author) , Zink, Alexander M. (Author) , Alston, Charlotte L. (Author) , Taylor, Robert W. (Author) , Rodenburg, Richard J. (Author) , Trollmann, Regina (Author) , Sperl, Wolfgang (Author) , Strom, Tim M. (Author) , Hoffmann, Georg F. (Author) , Mayr, Johannes A. (Author) , Meitinger, Thomas (Author) , Bolognini, Ramona (Author) , Schuelke, Markus (Author) , Nuoffer, Jean-Marc (Author) , Kölker, Stefan (Author) , Prokisch, Holger (Author) , Klopstock, Thomas (Author) ,


    Get full text
    Article (Journal) Online Resource


    Saved in:
  19. 19
    Cover Image

    Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing by Haack, Tobias (Author) , Herberg, Ulrike (Author) , Hoffmann, Georg F. (Author) , Prokisch, Holger (Author) ,


    Get full text
    Article (Journal) Online Resource


    Saved in:

Search Tools: