Specific de novo variants in RNF213 cause a monogenic early-onset multisystemic disease ranging from childhood stroke to Leigh-like syndrome

Brunet, Theresa; Lieftuechter, Victoria; Lenz, Dominic; Peters, Philipp; Kopajtich, Robert; Zott, Benedikt; Zimmermann, Hanna; Huening, Irina; Ballhausen, Diana; Staufner, Christian; Bianzano, Alyssa; Hughes, Joanne; Taylor, Robert; McFarland, Robert; Zigman, Tamara; Ramadza, Danijela Petkovic; Meino, Rohlfs; Hehr, Ute; Sondheimer, Neal; Hewson, Stacy; Marinakis, Nikolaos; Kosma, Konstantina; Traeger-Synodinos, Jan; Prokisch, Holger; Meitinger, Thomas; Borggraefe, Ingo; Spiegler, Juliane; Baric, Ivo; Paolini, Marco; Gerstl, Lucia; Wagner, Matias     «

Brunet, Theresa; Lieftuechter, Victoria; Lenz, Dominic; Peters, Philipp; Kopajtich, Robert; Zott, Benedikt; Zimmermann, Hanna; Huening, Irina; Ballhausen, Diana; Staufner, Christian; Bianzano, Alyssa; Hughes, Joanne; Taylor, Robert; McFarland, Robert; Zigman, Tamara; Ramadza, Danijela Petkovic; Meino, Rohlfs; Hehr, Ute; Sondheimer, Neal; Hewson, Stacy; Marinakis, Nikolaos; Kosma, Konstantina; Traeger-Synodinos, Jan; Prokisch, Holger; Meitinger, Thomas; Borggraefe, Ingo; Spiegler, Juliane; Baric,...     »