Items where Author is "Baric, Ivo"

Article

Roesch, Sebastian and O'Sullivan, Anna and Tschani, Stefan and Baghdasaryan, Anna and Balasubramaniam, Shanti and Baric, Ivo and de Boer, Lonneke and Grunert, Sarah C. and Guzek, Anna and Janssen, Mirian and Krumina, Zita and Koenig, Mary Kay and Lewkowitz, Ashleigh M. and Mochel, Fanny and Naldi, Arianne Monge and Plecko, Barbara and Ozturk, Kerem and O'Grady, Lauren and Riordan, Gillian and Rymen, Daisy and Sahai, Inderneel and Santer, Rene and Schiff, Manuel and Stettner, Georg M. and Tsiakas, Konstantinos and Ucar, Sema Kalkan and Uzun, Ozlem Unal and Weigel, Corina and Witters, Peter and Merkevicius, Kajus and Mayr, Johannes A. and Wortmann, Saskia B. and Iwanicka-Pronicka, Katarzyna (2025) Hearing rehabilitation in SERAC1 related MEGD(H)EL syndrome-implications from a multi-center retrospective cohort study. MOLECULAR GENETICS AND METABOLISM, 146 (1-2): 109193. ISSN 1096-7192, 1096-7206

Conference or Workshop Item

Schlieben, Lea Dewi and Lenz, Dominic and Shimura, Masaru and Bianzano, Alyssa and Smirnov, Dmitrii and Kopajtich, Robert and Adam, Rudiger and Vogel, Georg-Friedrich and Baric, Ivo and Bufler, Philip and Burnyte, Birute and Calvo, Pier Luigi and Crushell, Ellen and Das, Anibh M. and Distelmaier, Felix and Freisinger, Peter and Hadzic, Nedim and Hartleif, Steffen and Hempel, Maja and Kansu, Aydan and Kaspar, Sonja and Kelly, Deidre and Knoppke, Birgit and Konstantopoulou, Vassiliki and Krylova, Tatiana and Alice, Kuster and Lainka, Elke and Lurz, Eberhard and Mandel, Hanna and McKiernan, Patrick and Piekutowska-Abramczuk, Dorota and Rotig, Agnes and Santer, Rene and Taylor, Robert and Wortmann, Saskia and Vockley, Jerry and Koelker, Stefan and Hoffmann, Georg Friedrich and Meitinger, Thomas and Murayama, Kei and Staufner, Christian and Prokisch, Holger (2023) The PALFES study: exome sequencing identified the genetic cause in 40% of 256 pediatric acute liver failure cases without aetiology. In: 55th European-Society of Human Genetics (ESHG) Conference, June 11-14, 2022, Vienna, Austria.

Brunet, Theresa and Lieftuechter, Victoria and Lenz, Dominic and Peters, Philipp and Kopajtich, Robert and Zott, Benedikt and Zimmermann, Hanna and Huening, Irina and Ballhausen, Diana and Staufner, Christian and Bianzano, Alyssa and Hughes, Joanne and Taylor, Robert and McFarland, Robert and Zigman, Tamara and Ramadza, Danijela Petkovic and Meino, Rohlfs and Hehr, Ute and Sondheimer, Neal and Hewson, Stacy and Marinakis, Nikolaos and Kosma, Konstantina and Traeger-Synodinos, Jan and Prokisch, Holger and Meitinger, Thomas and Borggraefe, Ingo and Spiegler, Juliane and Baric, Ivo and Paolini, Marco and Gerstl, Lucia and Wagner, Matias (2023) Specific de novo variants in RNF213 cause a monogenic early-onset multisystemic disease ranging from childhood stroke to Leigh-like syndrome. In: 55th European-Society of Human Genetics (ESHG) Conference, June 11-14, 2022, Vienna, Austria.