Search Results - Meitinger, T.

Pleiotropic effects of MORC2 derive from its epigenetic signature by Peymani, Fatemeh (Author) , Ebihara, Tomohiro (Author) , Smirnov, Dmitrii (Author) , Kopajtich, Robert (Author) , Ando, Masahiro (Author) , Bertini, Enrico (Author) , Carrozzo, Rosalba (Author) , Diodato, Daria (Author) , Distelmaier, Felix (Author) , Fang, Fang (Author) , Ghezzi, Daniele (Author) , Hempel, Maja (Author) , Iwanicka-Pronicka, Katarzyna (Author) , Klopstock, Thomas (Author) , Stenton, Sarah L (Author) , Lamperti, Costanza (Author) , Liu, Zhimei (Author) , Murtazina, Aysylu (Author) , Okamoto, Yuji (Author) , Okazaki, Yasushi (Author) , Piekutowska-Abramczuk, Dorota (Author) , Rötig, Agnés (Author) , Ryzhkova, Oxana (Author) , Schlein, Christian (Author) , Shagina, Olga (Author) , Takashima, Hiroshi (Author) , Tsygankova, Polina (Author) , Zech, Michael (Author) , Meitinger, Thomas (Author) , Shimura, Masaru (Author) , Murayama, Kei (Author) , Prokisch, Holger (Author) ,

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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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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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Targeted long-read sequencing of the Ewing sarcoma 6p25.1 susceptibility locus identifies germline-somatic interactions with EWSR1-FLI1 binding by Lee, Olivia W. (Author) , Rodrigues, Calvin (Author) , Lin, Shu-Hong (Author) , Luo, Wen (Author) , Jones, Kristine (Author) , Brown, Derek W. (Author) , Zhou, Weiyin (Author) , Karlins, Eric (Author) , Khan, Sairah M. (Author) , Baulande, Sylvain (Author) , Raynal, Virginie (Author) , Surdez, Didier (Author) , Reynaud, Stephanie (Author) , Rubio, Rebeca Alba (Author) , Zaidi, Sakina (Author) , Grossetête, Sandrine (Author) , Ballet, Stelly (Author) , Lapouble, Eve (Author) , Laurence, Valérie (Author) , Pierron, Gaelle (Author) , Gaspar, Nathalie (Author) , Corradini, Nadège (Author) , Marec-Bérard, Perrine (Author) , Rothman, Nathaniel (Author) , Dagnall, Casey L. (Author) , Burdett, Laurie (Author) , Manning, Michelle (Author) , Wyatt, Kathleen (Author) , Yeager, Meredith (Author) , Chari, Raj (Author) , Leisenring, Wendy M. (Author) , Kulozik, Andreas (Author) , Kriebel, Jennifer (Author) , Meitinger, Thomas (Author) , Strauch, Konstantin (Author) , Kirchner, Thomas (Author) , Dirksen, Uta (Author) , Mirabello, Lisa (Author) , Tucker, Margaret A. (Author) , Tirode, Franck (Author) , Armstrong, Gregory T. (Author) , Bhatia, Smita (Author) , Robison, Leslie L. (Author) , Yasui, Yutaka (Author) , Romero-Pérez, Laura (Author) , Hartmann, Wolfgang (Author) , Metzler, Markus (Author) , Diver, W. Ryan (Author) , Lori, Adriana (Author) , Freedman, Neal D. (Author) , Hoover, Robert N. (Author) , Morton, Lindsay M. (Author) , Chanock, Stephen J. (Author) , Grünewald, Thomas G. P. (Author) , Delattre, Olivier (Author) , Machiela, Mitchell J. (Author) ,

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Gene-educational attainment interactions in a multi-population genome-wide meta-analysis identify novel lipid loci by De las Fuentes, Lisa (Author) , Schwander, Karen L. (Author) , Brown, Michael R. (Author) , Bentley, Amy R. (Author) , Winkler, Thomas W. (Author) , Sung, Yun Ju (Author) , Munroe, Patricia B. (Author) , Miller, Clint L. (Author) , Aschard, Hugo (Author) , Aslibekyan, Stella (Author) , Bartz, Traci M. (Author) , Bielak, Lawrence F. (Author) , Chai, Jin Fang (Author) , Cheng, Ching-Yu (Author) , Dorajoo, Rajkumar (Author) , Feitosa, Mary F. (Author) , Guo, Xiuqing (Author) , Hartwig, Fernando P. (Author) , Horimoto, Andrea (Author) , Kolčić, Ivana (Author) , Lim, Elise (Author) , Liu, Yongmei (Author) , Manning, Alisa K. (Author) , Marten, Jonathan (Author) , Musani, Solomon K. (Author) , Noordam, Raymond (Author) , Padmanabhan, Sandosh (Author) , Rankinen, Tuomo (Author) , Richard, Melissa A. (Author) , Ridker, Paul M. (Author) , Smith, Albert V. (Author) , Vojinovic, Dina (Author) , Zonderman, Alan B. (Author) , Alver, Maris (Author) , Boissel, Mathilde (Author) , Christensen, Kaare (Author) , Freedman, Barry I. (Author) , Gao, Chuan (Author) , Giulianini, Franco (Author) , Harris, Sarah E. (Author) , He, Meian (Author) , Hsu, Fang-Chi (Author) , Kühnel, Brigitte (Author) , Laguzzi, Federica (Author) , Li, Xiaoyin (Author) , Lyytikäinen, Leo-Pekka (Author) , Nolte, Ilja M. (Author) , Poveda, Alaitz (Author) , Rauramaa, Rainer (Author) , Riaz, Muhammad (Author) , Robino, Antonietta (Author) , Sofer, Tamar (Author) , Takeuchi, Fumihiko (Author) , Tayo, Bamidele O. (Author) , van der Most, Peter J. (Author) , Verweij, Niek (Author) , Ware, Erin B. (Author) , Weiss, Stefan (Author) , Wen, Wanqing (Author) , Yanek, Lisa R. (Author) , Zhan, Yiqiang (Author) , Amin, Najaf (Author) , Arking, Dan E. (Author) , Ballantyne, Christie (Author) , Boerwinkle, Eric (Author) , Brody, Jennifer A. (Author) , Broeckel, Ulrich (Author) , Campbell, Archie (Author) , Canouil, Mickaël (Author) , Chai, Xiaoran (Author) , Chen, Yii-Der Ida (Author) , Chen, Xu (Author) , Chitrala, Kumaraswamy Naidu (Author) , Concas, Maria Pina (Author) , de Faire, Ulf (Author) , de Mutsert, Renée (Author) , de Silva, H. Janaka (Author) , de Vries, Paul S. (Author) , Do, Ahn (Author) , Faul, Jessica D. (Author) , Fisher, Virginia (Author) , Floyd, James S. (Author) , Forrester, Terrence (Author) , Friedlander, Yechiel (Author) , Girotto, Giorgia (Author) , Gu, C. Charles (Author) , Hallmans, Göran (Author) , Heikkinen, Sami (Author) , Heng, Chew-Kiat (Author) , Homuth, Georg (Author) , Hunt, Steven (Author) , Ikram, M. Arfan (Author) , Jacobs, David R. (Author) , Kavousi, Maryam (Author) , Khor, Chiea Chuen (Author) , Kilpeläinen, Tuomas O. (Author) , Koh, Woon-Puay (Author) , Komulainen, Pirjo (Author) , Langefeld, Carl D. (Author) , Liang, Jingjing (Author) , Liu, Kiang (Author) , Liu, Jianjun (Author) , Lohman, Kurt (Author) , Mägi, Reedik (Author) , Manichaikul, Ani W. (Author) , McKenzie, Colin A. (Author) , Meitinger, Thomas (Author) , Milaneschi, Yuri (Author) , Nauck, Matthias (Author) , Nelson, Christopher P. (Author) , O’Connell, Jeffrey R. (Author) , Palmer, Nicholette D. (Author) , Pereira, Alexandre C. (Author) , Perls, Thomas (Author) , Peters, Annette (Author) , Polašek, Ozren (Author) , Raitakari, Olli T. (Author) , Rice, Kenneth (Author) , Rice, Treva K. (Author) , Rich, Stephen S. (Author) , Sabanayagam, Charumathi (Author) , Schreiner, Pamela J. (Author) , Shu, Xiao-Ou (Author) , Sidney, Stephen (Author) , Sims, Mario (Author) , Smith, Jennifer A. (Author) , Starr, John M. (Author) , Strauch, Konstantin (Author) , Tai, E. Shyong (Author) , Taylor, Kent D. (Author) , Tsai, Michael Y. (Author) , Uitterlinden, André G. (Author) , van Heemst, Diana (Author) , Waldenberger, Melanie (Author) , Wang, Ya-Xing (Author) , Wei, Wen-Bin (Author) , Wilson, Gregory (Author) , Xuan, Deng (Author) , Yao, Jie (Author) , Yu, Caizheng (Author) , Yuan, Jian-Min (Author) , Zhao, Wei (Author) , Becker, Diane M. (Author) , Bonnefond, Amélie (Author) , Bowden, Donald W. (Author) , Cooper, Richard S. (Author) , Deary, Ian J. (Author) , Divers, Jasmin (Author) , Esko, Tõnu (Author) , Franks, Paul W. (Author) , Froguel, Philippe (Author) , Gieger, Christian (Author) , Jonas, Jost B. (Author) , Kato, Norihiro (Author) , Lakka, Timo A. (Author) , Leander, Karin (Author) , Lehtimäki, Terho (Author) , Magnusson, Patrik K. E. (Author) , North, Kari E. (Author) , Ntalla, Ioanna (Author) , Penninx, Brenda (Author) , Samani, Nilesh J. (Author) , Snieder, Harold (Author) , Spedicati, Beatrice (Author) , van der Harst, Pim (Author) , Völzke, Henry (Author) , Wagenknecht, Lynne E. (Author) , Weir, David R. (Author) , Wojczynski, Mary K. (Author) , Wu, Tangchun (Author) , Zheng, Wei (Author) , Zhu, Xiaofeng (Author) , Bouchard, Claude (Author) , Chasman, Daniel I. (Author) , Evans, Michele K. (Author) , Fox, Ervin R. (Author) , Gudnason, Vilmundur (Author) , Hayward, Caroline (Author) , Horta, Bernardo L. (Author) , Kardia, Sharon L. R. (Author) , Krieger, Jose Eduardo (Author) , Mook-Kanamori, Dennis O. (Author) , Peyser, Patricia A. (Author) , Province, Michael M. (Author) , Psaty, Bruce M. (Author) , Rudan, Igor (Author) , Sim, Xueling (Author) , Smith, Blair H. (Author) , van Dam, Rob M. (Author) , van Duijn, Cornelia M. (Author) , Wong, Tien Yin (Author) , Arnett, Donna K. (Author) , Rao, Dabeeru C. (Author) , Gauderman, James (Author) , Liu, Ching-Ti (Author) , Morrison, Alanna C. (Author) , Rotter, Jerome I. (Author) , Fornage, Myriam (Author) ,

• Resolving-System, kostenfrei, Volltext
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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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Renal X-inactivation in female individuals with X-linked Alport syndrome primarily determined by age by Günthner, Roman (Author) , Knipping, Lea (Author) , Jeruschke, Stefanie (Author) , Satanoskij, Robin (Author) , Lorenz-Depiereux, Bettina (Author) , Hemmer, Clara (Author) , Braunisch, Matthias C. (Author) , Riedhammer, Korbinian M. (Author) , Ćomić, Jasmina (Author) , Tönshoff, Burkhard (Author) , Tasic, Velibor (Author) , Abazi-Emini, Nora (Author) , Nushi-Stavileci, Valbona (Author) , Buiting, Karin (Author) , Gjorgjievski, Nikola (Author) , Momirovska, Ana (Author) , Patzer, Ludwig (Author) , Kirschstein, Martin (Author) , Gross, Oliver (Author) , Lungu, Adrian (Author) , Weber, Stefanie (Author) , Renders, Lutz (Author) , Heemann, Uwe (Author) , Meitinger, Thomas (Author) , Büscher, Anja K. (Author) , Hoefele, Julia (Author) ,

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MicroRNA-365 regulates human cardiac action potential duration by Esfandyari, Dena (Author) , Idrissou, Bio Maria Ghéo (Author) , Hennis, Konstantin (Author) , Avramopoulos, Petros (Author) , Dueck, Anne (Author) , El-Battrawy, Ibrahim (Author) , Grüter, Laurenz (Author) , Meier, Melanie Annemarie (Author) , Näger, Anna Christina (Author) , Ramanujam, Deepak (Author) , Dorn, Tatjana (Author) , Meitinger, Thomas (Author) , Hagl, Christian (Author) , Milting, Hendrik (Author) , Borggrefe, Martin (Author) , Fenske, Stefanie (Author) , Biel, Martin (Author) , Dendorfer, Andreas (Author) , Sassi, Yassine (Author) , Moretti, Alessandra (Author) , Engelhardt, Stefan (Author) ,

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Genome-wide meta-analysis of phytosterols reveals five novel loci and a detrimental effect on coronary atherosclerosis by Scholz, Markus (Author) , Horn, Katrin (Author) , Pott, Janne (Author) , Gross, Arnd (Author) , Kleber, Marcus E. (Author) , Delgado Gonzales de Kleber, Graciela (Author) , Mishra, Pashupati Prasad (Author) , Kirsten, Holger (Author) , Gieger, Christian (Author) , Müller-Nurasyid, Martina (Author) , Tönjes, Anke (Author) , Kovacs, Peter (Author) , Lehtimäki, Terho (Author) , Raitakari, Olli (Author) , Kähönen, Mika (Author) , Gylling, Helena (Author) , Baber, Ronny (Author) , Isermann, Berend (Author) , Stumvoll, Michael (Author) , Loeffler, Markus (Author) , März, Winfried (Author) , Meitinger, Thomas (Author) , Peters, Annette (Author) , Thiery, Joachim (Author) , Teupser, Daniel (Author) , Ceglarek, Uta (Author) ,

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Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility: letters by Barc, Julien (Author) , Tadros, Rafik (Author) , Glinge, Charlotte (Author) , Chiang, David Y. (Author) , Jouni, Mariam (Author) , Simonet, Floriane (Author) , Jurgens, Sean J. (Author) , Baudic, Manon (Author) , Nicastro, Michele (Author) , Potet, Franck (Author) , Offerhaus, Joost A. (Author) , Walsh, Roddy (Author) , Choi, Seung Hoan (Author) , Verkerk, Arie O. (Author) , Mizusawa, Yuka (Author) , Anys, Soraya (Author) , Minois, Damien (Author) , Arnaud, Marine (Author) , Duchateau, Josselin (Author) , Wijeyeratne, Yanushi D. (Author) , Muir, Alison (Author) , Papadakis, Michael (Author) , Castelletti, Silvia (Author) , Torchio, Margherita (Author) , Ortuño, Cristina Gil (Author) , Lacunza, Javier (Author) , Giachino, Daniela F. (Author) , Cerrato, Natascia (Author) , Martins, Raphaël P. (Author) , Campuzano, Oscar (Author) , Van Dooren, Sonia (Author) , Thollet, Aurélie (Author) , Kyndt, Florence (Author) , Mazzanti, Andrea (Author) , Clémenty, Nicolas (Author) , Bisson, Arnaud (Author) , Corveleyn, Anniek (Author) , Stallmeyer, Birgit (Author) , Dittmann, Sven (Author) , Saenen, Johan (Author) , Noël, Antoine (Author) , Honarbakhsh, Shohreh (Author) , Rudic, Boris (Author) , Marzak, Halim (Author) , Rowe, Matthew K. (Author) , Federspiel, Claire (Author) , Le Page, Sophie (Author) , Placide, Leslie (Author) , Milhem, Antoine (Author) , Barajas-Martinez, Hector (Author) , Beckmann, Britt-Maria (Author) , Krapels, Ingrid P. (Author) , Steinfurt, Johannes (Author) , Winkel, Bo Gregers (Author) , Jabbari, Reza (Author) , Shoemaker, Moore B. (Author) , Boukens, Bas J. (Author) , Škorić-Milosavljević, Doris (Author) , Bikker, Hennie (Author) , Manevy, Federico (Author) , Lichtner, Peter (Author) , Ribasés, Marta (Author) , Meitinger, Thomas (Author) , Müller-Nurasyid, Martina (Author) , Veldink, Jan H. (Author) , van den Berg, Leonard H. (Author) , Van Damme, Philip (Author) , Cusi, Daniele (Author) , Lanzani, Chiara (Author) , Rigade, Sidwell (Author) , Charpentier, Eric (Author) , Baron, Estelle (Author) , Bonnaud, Stéphanie (Author) , Lecointe, Simon (Author) , Donnart, Audrey (Author) , Le Marec, Hervé (Author) , Chatel, Stéphanie (Author) , Karakachoff, Matilde (Author) , Bézieau, Stéphane (Author) , London, Barry (Author) , Tfelt-Hansen, Jacob (Author) , Roden, Dan (Author) , Odening, Katja E. (Author) , Cerrone, Marina (Author) , Chinitz, Larry A. (Author) , Volders, Paul G. (Author) , van de Berg, Maarten P. (Author) , Laurent, Gabriel (Author) , Faivre, Laurence (Author) , Antzelevitch, Charles (Author) , Kääb, Stefan (Author) , Arnaout, Alain Al (Author) , Dupuis, Jean-Marc (Author) , Pasquie, Jean-Luc (Author) , Billon, Olivier (Author) , Roberts, Jason D. (Author) , Jesel, Laurence (Author) , Borggrefe, Martin (Author) , Lambiase, Pier D. (Author) , Mansourati, Jacques (Author) , Loeys, Bart (Author) , Leenhardt, Antoine (Author) , Guicheney, Pascale (Author) , Maury, Philippe (Author) , Schulze-Bahr, Eric (Author) , Robyns, Tomas (Author) , Breckpot, Jeroen (Author) , Babuty, Dominique (Author) , Priori, Silvia G. (Author) , Napolitano, Carlo (Author) , de Asmundis, Carlo (Author) , Brugada, Pedro (Author) , Brugada, Ramon (Author) , Arbelo, Elena (Author) , Brugada, Josep (Author) , Mabo, Philippe (Author) , Behar, Nathalie (Author) , Giustetto, Carla (Author) , Molina, Maria Sabater (Author) , Gimeno, Juan R. (Author) , Hasdemir, Can (Author) , Schwartz, Peter J. (Author) , Crotti, Lia (Author) , McKeown, Pascal P. (Author) , Sharma, Sanjay (Author) , Behr, Elijah R. (Author) , Haissaguerre, Michel (Author) , Sacher, Frédéric (Author) , Rooryck, Caroline (Author) , Tan, Hanno L. (Author) , Remme, Carol A. (Author) , Postema, Pieter G. (Author) , Delmar, Mario (Author) , Ellinor, Patrick T. (Author) , Lubitz, Steven A. (Author) , Gourraud, Jean-Baptiste (Author) , Tanck, Michael W. (Author) , George, Alfred L. (Author) , MacRae, Calum A. (Author) , Burridge, Paul W. (Author) , Dina, Christian (Author) , Probst, Vincent (Author) , Wilde, Arthur A. (Author) , Schott, Jean-Jacques (Author) , Redon, Richard (Author) , Bezzina, Connie R. (Author) ,

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• Verlag, lizenzpflichtig, Volltext

Author correction: Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility: am... by Barc, Julien (Author) , Tadros, Rafik (Author) , Glinge, Charlotte (Author) , Chiang, David Y. (Author) , Jouni, Mariam (Author) , Simonet, Floriane (Author) , Jurgens, Sean J. (Author) , Baudic, Manon (Author) , Nicastro, Michele (Author) , Potet, Franck (Author) , Offerhaus, Joost A. (Author) , Walsh, Roddy (Author) , Choi, Seung Hoan (Author) , Verkerk, Arie O. (Author) , Mizusawa, Yuka (Author) , Anys, Soraya (Author) , Minois, Damien (Author) , Arnaud, Marine (Author) , Duchateau, Josselin (Author) , Wijeyeratne, Yanushi D. (Author) , Muir, Alison (Author) , Papadakis, Michael (Author) , Castelletti, Silvia (Author) , Torchio, Margherita (Author) , Ortuño, Cristina Gil (Author) , Lacunza, Javier (Author) , Giachino, Daniela F. (Author) , Cerrato, Natascia (Author) , Martins, Raphaël P. (Author) , Campuzano, Oscar (Author) , Van Dooren, Sonia (Author) , Thollet, Aurélie (Author) , Kyndt, Florence (Author) , Mazzanti, Andrea (Author) , Clémenty, Nicolas (Author) , Bisson, Arnaud (Author) , Corveleyn, Anniek (Author) , Stallmeyer, Birgit (Author) , Dittmann, Sven (Author) , Saenen, Johan (Author) , Noël, Antoine (Author) , Honarbakhsh, Shohreh (Author) , Rudic, Boris (Author) , Marzak, Halim (Author) , Rowe, Matthew K. (Author) , Federspiel, Claire (Author) , Le Page, Sophie (Author) , Placide, Leslie (Author) , Milhem, Antoine (Author) , Barajas-Martinez, Hector (Author) , Beckmann, Britt-Maria (Author) , Krapels, Ingrid P. (Author) , Steinfurt, Johannes (Author) , Winkel, Bo Gregers (Author) , Jabbari, Reza (Author) , Shoemaker, Moore B. (Author) , Boukens, Bas J. (Author) , Škorić-Milosavljević, Doris (Author) , Bikker, Hennie (Author) , Manevy, Federico (Author) , Lichtner, Peter (Author) , Ribasés, Marta (Author) , Meitinger, Thomas (Author) , Müller-Nurasyid, Martina (Author) , Veldink, Jan H. (Author) , van den Berg, Leonard H. (Author) , Van Damme, Philip (Author) , Cusi, Daniele (Author) , Lanzani, Chiara (Author) , Rigade, Sidwell (Author) , Charpentier, Eric (Author) , Baron, Estelle (Author) , Bonnaud, Stéphanie (Author) , Lecointe, Simon (Author) , Donnart, Audrey (Author) , Le Marec, Hervé (Author) , Chatel, Stéphanie (Author) , Karakachoff, Matilde (Author) , Bézieau, Stéphane (Author) , London, Barry (Author) , Tfelt-Hansen, Jacob (Author) , Roden, Dan (Author) , Odening, Katja E. (Author) , Cerrone, Marina (Author) , Chinitz, Larry A. (Author) , Volders, Paul G. (Author) , van de Berg, Maarten P. (Author) , Laurent, Gabriel (Author) , Faivre, Laurence (Author) , Antzelevitch, Charles (Author) , Kääb, Stefan (Author) , Arnaout, Alain Al (Author) , Dupuis, Jean-Marc (Author) , Pasquie, Jean-Luc (Author) , Billon, Olivier (Author) , Roberts, Jason D. (Author) , Jesel, Laurence (Author) , Borggrefe, Martin (Author) , Lambiase, Pier D. (Author) , Mansourati, Jacques (Author) , Loeys, Bart (Author) , Leenhardt, Antoine (Author) , Guicheney, Pascale (Author) , Maury, Philippe (Author) , Schulze-Bahr, Eric (Author) , Robyns, Tomas (Author) , Breckpot, Jeroen (Author) , Babuty, Dominique (Author) , Priori, Silvia G. (Author) , Napolitano, Carlo (Author) , de Asmundis, Carlo (Author) , Brugada, Pedro (Author) , Brugada, Ramon (Author) , Arbelo, Elena (Author) , Brugada, Josep (Author) , Mabo, Philippe (Author) , Behar, Nathalie (Author) , Giustetto, Carla (Author) , Molina, Maria Sabater (Author) , Gimeno, Juan R. (Author) , Hasdemir, Can (Author) , Schwartz, Peter J. (Author) , Crotti, Lia (Author) , McKeown, Pascal P. (Author) , Sharma, Sanjay (Author) , Behr, Elijah R. (Author) , Haissaguerre, Michel (Author) , Sacher, Frédéric (Author) , Rooryck, Caroline (Author) , Tan, Hanno L. (Author) , Remme, Carol A. (Author) , Postema, Pieter G. (Author) , Delmar, Mario (Author) , Ellinor, Patrick T. (Author) , Lubitz, Steven A. (Author) , Gourraud, Jean-Baptiste (Author) , Tanck, Michael W. (Author) , George, Alfred L. (Author) , MacRae, Calum A. (Author) , Burridge, Paul W. (Author) , Dina, Christian (Author) , Probst, Vincent (Author) , Wilde, Arthur A. (Author) , Schott, Jean-Jacques (Author) , Redon, Richard (Author) , Bezzina, Connie R. (Author) ,

• Verlag, lizenzpflichtig, Volltext
• Verlag, lizenzpflichtig, Volltext

Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss by Richard, Elodie M. (Author) , Bakhtiari, Somayeh (Author) , Marsh, Ashley P. L. (Author) , Kaiyrzhanov, Rauan (Author) , Wagner, Matias (Author) , Shetty, Sheetal (Author) , Pagnozzi, Alex (Author) , Nordlie, Sandra M. (Author) , Guida, Brandon S. (Author) , Cornejo, Patricia (Author) , Magee, Helen (Author) , Liu, James (Author) , Norton, Bethany Y. (Author) , Webster, Richard I. (Author) , Worgan, Lisa (Author) , Hakonarson, Hakon (Author) , Li, Jiankang (Author) , Guo, Yiran (Author) , Jain, Mahim (Author) , Blesson, Alyssa (Author) , Rodan, Lance H. (Author) , Abbott, Mary-Alice (Author) , Comi, Anne (Author) , Cohen, Julie S. (Author) , Alhaddad, Bader (Author) , Meitinger, Thomas (Author) , Lenz, Dominic (Author) , Ziegler, Andreas (Author) , Kotzaeridou, Urania (Author) , Brunet, Theresa (Author) , Chassevent, Anna (Author) , Smith-Hicks, Constance (Author) , Ekstein, Joseph (Author) , Weiden, Tzvi (Author) , Hahn, Andreas (Author) , Zharkinbekova, Nazira (Author) , Turnpenny, Peter (Author) , Tucci, Arianna (Author) , Yelton, Melissa (Author) , Horvath, Rita (Author) , Gungor, Serdal (Author) , Hiz, Semra (Author) , Oktay, Yavuz (Author) , Lochmuller, Hanns (Author) , Zollino, Marcella (Author) , Morleo, Manuela (Author) , Marangi, Giuseppe (Author) , Nigro, Vincenzo (Author) , Torella, Annalaura (Author) , Pinelli, Michele (Author) , Amenta, Simona (Author) , Husain, Ralf A. (Author) , Grossmann, Benita (Author) , Rapp, Marion (Author) , Steen, Claudia (Author) , Marquardt, Iris (Author) , Grimmel, Mona (Author) , Grasshoff, Ute (Author) , Korenke, Christoph (Author) , Owczarek-Lipska, Marta (Author) , Neidhardt, John (Author) , Radio, Francesca Clementina (Author) , Mancini, Cecilia (Author) , Claps Sepulveda, Dianela Judith (Author) , McWalter, Kirsty (Author) , Begtrup, Amber (Author) , Crunk, Amy (Author) , Guillen Sacoto, Maria J. (Author) , Person, Richard (Author) , Schnur, Rhonda E. (Author) , Mancardi, Maria Margherita (Author) , Kreuder, Florian (Author) , Striano, Pasquale (Author) , Zara, Federico (Author) , Chung, Wendy K. (Author) , Marks, Warren A. (Author) , van Eyk, Clare L. (Author) , Webber, Dani L. (Author) , Corbett, Mark A. (Author) , Harper, Kelly (Author) , Berry, Jesia G. (Author) , MacLennan, Alastair H. (Author) , Gecz, Jozef (Author) , Tartaglia, Marco (Author) , Salpietro, Vincenzo (Author) , Christodoulou, John (Author) , Kaslin, Jan (Author) , Padilla-Lopez, Sergio (Author) , Bilguvar, Kaya (Author) , Munchau, Alexander (Author) , Ahmed, Zubair M. (Author) , Hufnagel, Robert B. (Author) , Fahey, Michael C. (Author) , Maroofian, Reza (Author) , Houlden, Henry (Author) , Sticht, Heinrich (Author) , Mane, Shrikant M. (Author) , Rad, Aboulfazl (Author) , Vona, Barbara (Author) , Jin, Sheng Chih (Author) , Haack, Tobias B. (Author) , Makowski, Christine (Author) , Hirsch, Yoel (Author) , Riazuddin, Saima (Author) , Kruer, Michael C. (Author) ,

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• Verlag, lizenzpflichtig, Volltext

Bi-allelic truncating mutations in VWA1 cause neuromyopathy by Deschauer, Marcus (Author) , Hengel, Holger (Author) , Rupprich, Katrin (Author) , Kreiß, Martina (Author) , Schlotter-Weigel, Beate (Author) , Grimmel, Mona (Author) , Admard, Jakob (Author) , Schneider, Ilka (Author) , Alhaddad, Bader (Author) , Gazou, Anastasia (Author) , Sturm, Marc (Author) , Vorgerd, Matthias (Author) , Balousha, Ghassan (Author) , Balousha, Osama (Author) , Falna, Mohammed (Author) , Kirschke, Jan S. (Author) , Kornblum, Cornelia (Author) , Jordan, Berit (Author) , Kraya, Torsten (Author) , Strom, Tim M. (Author) , Weis, Joachim (Author) , Schöls, Ludger (Author) , Schara, Ulrike (Author) , Zierz, Stephan (Author) , Riess, Olaf (Author) , Meitinger, Thomas (Author) , Haack, Tobias B. (Author) ,

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• Resolving-System, lizenzpflichtig

SQSTM1/p62 variants in 486 patients with familial ALS from Germany and Sweden by Yılmaz, Rüstem (Author) , Müller, Kathrin (Author) , Brenner, David (Author) , Volk, Alexander E. (Author) , Borck, Guntram (Author) , Hermann, Andreas (Author) , Meitinger, Thomas (Author) , Strom, Tim M. (Author) , Danzer, Karin M. (Author) , Ludolph, Albert C. (Author) , Andersen, Peter M. (Author) , Weishaupt, Jochen H. (Author) , Weyen, Ute (Author) , Regensburger, Martin (Author) , Winkler, Jürgen (Author) , Linker, Ralf (Author) , Winner, Beate (Author) , Hagenacker, Tim (Author) , Koch, Jan Christoph (Author) , Lingor, Paul (Author) , Göricke, Bettina (Author) , Zierz, Stephan (Author) , Jordan, Berit (Author) , Baum, Petra (Author) , Wolf, Joachim (Author) , Winkler, Andrea (Author) , Young, Peter (Author) , Bogdahn, Ulrich (Author) , Prudlo, Johannes (Author) , Kassubek, Jan Rainer (Author) ,

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• Verlag, lizenzpflichtig, Volltext

Biotinidase deficiency: a treatable cause of hereditary spastic paraparesis by Radelfahr, Florentine (Author) , Riedhammer, Korbinian M. (Author) , Keidel, Leonie F. (Author) , Gramer, Gwendolyn (Author) , Meitinger, Thomas (Author) , Klopstock, Thomas (Author) , Wagner, Matias (Author) ,

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• Verlag, lizenzpflichtig, Volltext

SCN5A mutation type and a genetic risk score associate variably with Brugada Syndrome Phenotype in SCN5A families by Wijeyeratne, Yanushi (Author) , Tanck, Michael W. (Author) , Mizusawa, Yuka (Author) , Batchvarov, Velislav (Author) , Barc, Julien (Author) , Crotti, Lia (Author) , Bos, J. Martijn (Author) , Tester, David J. (Author) , Muir, Alison (Author) , Veltmann, Christian (Author) , Ohno, Seiko (Author) , Page, Stephen P. (Author) , Galvin, Joseph (Author) , Tadros, Rafik (Author) , Muggenthaler, Martina (Author) , Raju, Hariharan (Author) , Denjoy, Isabelle (Author) , Schott, Jean-Jacques (Author) , Gourraud, Jean-Baptiste (Author) , Skoric-Milosavljevic, Doris (Author) , Nannenberg, Eline A. (Author) , Redon, Richard (Author) , Papadakis, Michael (Author) , Kyndt, Florence (Author) , Dagradi, Federica (Author) , Castelletti, Silvia (Author) , Torchio, Margherita (Author) , Meitinger, Thomas (Author) , Lichtner, Peter (Author) , Ishikawa, Taisuke (Author) , Wilde, Arthur A.M. (Author) , Takahashi, Kazuhiro (Author) , Sharma, Sanjay (Author) , Roden, Dan M. (Author) , Borggrefe, Martin (Author) , McKeown, Pascal P. (Author) , Shimizu, Wataru (Author) , Horie, Minoru (Author) , Makita, Naomasa (Author) , Aiba, Takeshi (Author) , Ackerman, Michael J. (Author) , Schwartz, Peter J. (Author) , Probst, Vincent (Author) , Bezzina, Connie R. (Author) , Behr, Elijah R. (Author) ,

• Verlag, kostenfrei, Volltext
• Verlag, kostenfrei, Volltext

Reply: Adult-onset distal spinal muscular atrophy: a new phenotype associated with KIF5A mutations: letter to the editor by Brenner, David (Author) , Rosenbohm, Angela (Author) , Yılmaz, Rüstem (Author) , Müller, Kathrin (Author) , Grehl, Torsten (Author) , Petri, Susanne (Author) , Meyer, Thomas (Author) , Großkreutz, Julian (Author) , Weydt, Patrick (Author) , Ruf, Wolfgang (Author) , Neuwirth, Christoph (Author) , Weber, Markus (Author) , Pinto, Susana (Author) , Claeys, Kristl G (Author) , Schrank, Berthold (Author) , Jordan, Berit (Author) , Knehr, Antje (Author) , Günther, Kornelia (Author) , Hübers, Annemarie (Author) , Zeller, Daniel (Author) , Kubisch, Christian (Author) , Jablonka, Sibylle (Author) , Sendtner, Michael (Author) , Klopstock, Thomas (Author) , de Carvalho, Mamede (Author) , Sperfeld, Anne (Author) , Borck, Guntram (Author) , Volk, Alexander E. (Author) , Dorst, Johannes (Author) , Weis, Joachim (Author) , Otto, Markus (Author) , Schuster, Joachim (Author) , Del Tredici, Kelly (Author) , Braak, Heiko (Author) , Danzer, Karin M (Author) , Freischmidt, Axel (Author) , Meitinger, Thomas (Author) , Ludolph, Albert C. (Author) , Andersen, Peter M (Author) , Weishaupt, Jochen H. (Author) ,

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A biallelic mutation links MYORG to autosomal-recessive primary familial brain calcification: letter to the editor by Forouhideh, Yalda (Author) , Müller, Kathrin (Author) , Ruf, Wolfgang (Author) , Assi, Muhannad (Author) , Şeker, Tuncay (Author) , Tunca, Ceren (Author) , Knehr, Antje (Author) , Strom, Tim M (Author) , Gorges, Martin (Author) , Schradt, Falk (Author) , Meitinger, Thomas (Author) , Ludolph, Albert C. (Author) , Pinkhardt, Elmar H (Author) , Başak, A Nazlı (Author) , Kassubek, Jan Rainer (Author) , Uttner, Ingo (Author) , Weishaupt, Jochen H. (Author) ,

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Hot-spot KIF5A mutations cause familial ALS by Brenner, David (Author) , Yılmaz, Rüstem (Author) , Müller, Kathrin (Author) , Grehl, Torsten (Author) , Petri, Susanne (Author) , Meyer, Thomas (Author) , Großkreutz, Julian (Author) , Weydt, Patrick (Author) , Ruf, Wolfgang (Author) , Neuwirth, Christoph (Author) , Weber, Markus (Author) , Pinto, Susana (Author) , Claeys, Kristl G. (Author) , Schrank, Berthold (Author) , Jordan, Berit (Author) , Knehr, Antje (Author) , Günther, Kornelia (Author) , Hübers, Annemarie (Author) , Zeller, Daniel (Author) , Kubisch, Christian (Author) , Jablonka, Sibylle (Author) , Sendtner, Michael (Author) , Klopstock, Thomas (Author) , de Carvalho, Mamede (Author) , Sperfeld, Anne (Author) , Borck, Guntram (Author) , Volk, Alexander E. (Author) , Dorst, Johannes (Author) , Weis, Joachim (Author) , Otto, Markus (Author) , Schuster, Joachim (Author) , Del Tredici, Kelly (Author) , Braak, Heiko (Author) , Danzer, Karin M. (Author) , Freischmidt, Axel (Author) , Meitinger, Thomas (Author) , Strom, Tim M. (Author) , Ludolph, Albert C. (Author) , Andersen, Peter M. (Author) , Weishaupt, Jochen H. (Author) ,

Comprehensive analysis of the mutation spectrum in 301 German ALS families by Müller, Kathrin (Author) , Brenner, David (Author) , Weydt, Patrick (Author) , Meyer, Thomas (Author) , Grehl, Torsten (Author) , Petri, Susanne (Author) , Großkreutz, Julian (Author) , Schuster, Joachim (Author) , Volk, Alexander E. (Author) , Borck, Guntram (Author) , Kubisch, Christian (Author) , Klopstock, Thomas (Author) , Zeller, Daniel (Author) , Jablonka, Sibylle (Author) , Sendtner, Michael (Author) , Klebe, Stephan (Author) , Knehr, Antje (Author) , Günther, Kornelia (Author) , Weis, Joachim (Author) , Claeys, Kristl G. (Author) , Schrank, Berthold (Author) , Sperfeld, Anne-Dorte (Author) , Hübers, Annemarie (Author) , Otto, Markus (Author) , Dorst, Johannes (Author) , Meitinger, Thomas (Author) , Strom, Tim M. (Author) , Andersen, Peter M. (Author) , Ludolph, Albert C. (Author) , Weishaupt, Jochen H. (Author) ,

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• Verlag, lizenzpflichtig, Volltext