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    • Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9 

      Wissenschaftlicher Artikel
      Kortum, Fanny; Abou Jamra, Rami; Alawi, Malik; Berry, Susan A.; Borck, Guntram; Helbig, Katherine L.; Tang, Sha; Huhle, Dagmar; Korenke, Georg Christoph; Hebbar, Malavika; Shukla, Anju; Girisha, Katta M.; Steinlin, Maja; Waldmeier-Wilhelm, Sandra; Montomoli, Martino; Guerrini, Renzo; Lemke, Johannes R.; Kutsche, Kerstin (Universität Ulm, 2018)