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Eine Ebene höherGruppiert nach: Dokumententyp |
Veröffentlichungsdatum
Springe zu: 2018
Anzahl der Publikationen: 2
2018
Baker, Kate; Gordon, Sarah L.; Melland, Holly; Bumbak, Fabian; Scott, Daniel J.; Jiang, Tess J.; Owen, David; Turner, Bradley J.; Boyd, Stewart G.; Rossi, Mari; Al-Raqad, Mohammed; Elpeleg, Orly; Peck, Dawn; Mancini, Grazia M. S.; Wilke, Martina; Zollino, Marcella; Marangi, Giuseppe; Weigand, Heike; Borggraefe, Ingo; Haack, Tobias; Stark, Zornitza; Sadedin, Simon; Tan, Tiong Yang; Jiang, Yunyun; Gibbs, Richard A.; Ellingwood, Sara; Amaral, Michelle; Kelley, Whitley; Kurian, Manju A.; Cousin, Michael A. und Raymond, F. Lucy
(2018):
SYT1-associated neurodevelopmental disorder: a case series.
In: Brain, Bd. 141: S. 2576-2591
Owen, David; Topf, Ana; Preethish-Kumar, Veeramani; Lorenzoni, Paulo Jose; Vroling, Bas; Scola, Rosana Herminia; Dias-Tosta, Elza; Geraldo, Argemiro; Polavarapu, Kiran; Nashi, Saraswati; Cox, Daniel; Evangelista, Teresinha; Dawson, John; Thompson, Rachel; Senderek, Jan; Laurie, Steven; Beltran, Sergi; Gut, Marta; Gut, Ivo; Nalini, Atchayaram und Lochmüller, Hanns
(2018):
Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness.
In: American Journal of Medical Genetics Part A, Bd. 176, Nr. 7: S. 1594-1601