Now showing items 1-2 of 2

    • Ramírez, Alfredo; Ziegler, Andreas; Winkler, Susen; Kottwitz, Jan; Giesen, Roland; Díaz Grez, Fernando; Miranda, Marcelo; Venegas Francke, Pablo; Trujillo Godoy, Osvaldo; Avello, Rodrigo; Behrens Pellegrino, María Isabel; Klein, Christine; Segura Aguilar, Juan; Lohmann, Katja (Elsevier, 2011-01)
    • Behrens Pellegrino, María Isabel; Brüggemann, Norbert; Chana, Pedro; Venegas Francke, Pablo; Kägi, Marianne; Parrao, Teresa; Orellana, Patricia; Garrido, Cristián; Rojas, Cecilia V.; Hauke, Jan; Hahnen, Eric; González Victoriano, Rafael; Seleme Herrero, Eduardo; Fernández, Verónica; Schmidt, Alexander; Binkofski, Ferdinand; Kömpf, Detlef; Kubisch, Christian; Hagenah, Johann; Klein, Christine; Ramírez, Alfredo (2010)
      Abstract: We report the clinical features of the original Chilean family with Kufor-Rakeb syndrome (KRS) that led to the discovery of the ATP13A2 gene at the PARK9 locus. KRS is a rare juvenile-onset autosomal recessive ...