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Anzahl der Publikationen: 3
Zeitschriftenartikel
Kour, Sukhleen; Rajan, Deepa S.; Fortuna, Tyler R.; Anderson, Eric N.; Ward, Caroline; Lee, Youngha; Lee, Sangmoon; Shin, Yong Beom; Chae, Jong-Hee; Choi, Murim; Siquier, Karine; Cantagrel, Vincent; Amiel, Jeanne; Stolerman, Elliot S.; Barnett, Sarah S.; Cousin, Margot A.; Castro, Diana; McDonald, Kimberly; Kirmse, Brian; Nemeth, Andrea H.; Rajasundaram, Dhivyaa; Innes, A. Micheil; Lynch, Danielle; Frosk, Patrick; Collins, Abigail; Gibbons, Melissa; Yang, Michele; Desguerre, Isabelle; Boddaert, Nathalie; Gitiaux, Cyril; Rydning, Siri Lynne; Selmer, Kaja K.; Urreizti, Roser; Garcia-Oguiza, Alberto; Osorio, Andres Nascimento; Verdura, Edgard; Pujol, Aurora; McCurry, Hannah R.; Landers, John E.; Agnihotri, Sameer; Andriescu, E. Corina; Moody, Shade B.; Phornphutkul, Chanika; Sacoto, Maria J. Guillen; Begtrup, Amber; Houlden, Henry; Kirschner, Janbernd; Schorling, David; Rudnik-Schoeneborn, Sabine; Strom, Tim M.; Leiz, Steffen; Juliette, Kali; Richardson, Randal; Yang, Ying; Zhang, Yuehua; Wang, Minghui; Wang, Jia; Wang, Xiaodong; Platzer, Konrad; Donkervoort, Sandra; Bonnemann, Carsten G.; Wagner, Matias; Issa, Mahmoud Y.; Elbendary, Hasnaa M.; Stanley, Valentina; Maroofian, Reza; Gleeson, Joseph G.; Zaki, Maha S.; Senderek, Jan und Pandey, Udai Bhan
(2021):
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder.
In: Nature Communications, Bd. 12, Nr. 1, 2558
König, Kirsten; Pechmann, Astrid; Thiele, Simone; Walter, Maggie C.; Schorling, David; Tassoni, Adrian; Lochmüller, Hanns; Müller-Reible, Clemens und Kirschner, Janbernd
(2019):
De-duplicating patient records from three independent data sources reveals the incidence of rare neuromuscular disorders in Germany.
In: Orphanet Journal of Rare Diseases, Bd. 14, 152
Pechmann, Astrid; König, Kirsten; Bernert, Guenther; Schachtrup, Kristina; Schara, Ulrike; Schorling, David; Schwersenz, Inge; Stein, Sabine; Tassoni, Adrian; Vogt, Sibylle; Walter, Maggie C.; Lochmüller, Hanns und Kirschner, Janbernd
(2019):
SMArtCARE - A platform to collect real-life outcome data of patients with spinal muscular atrophy.
In: Orphanet Journal of Rare Diseases, Bd. 14, 18