Browsing by Author Seibler, Philip

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Issue DateTitleAuthor(s)Citation
2012ATP13A2 mutations impair mitochondrial function in fibroblasts from patients with Kufor-Rakeb syndromeSue, Carolyn; Arns, Bjorn; Grunewald, A; Klein, Christine; Munchau, Alexander; Rakovic, Aleksandar; Ramirez, Alfredo; Seibler, Philip; Northern Clinical School: MedicineATP13A2 mutations impair mitochondrial function in fibroblasts from patients with Kufor-Rakeb syndrome, Neurobiology of Aging, vol.33, 8, 2012,pp e1-e7
2013A novel OPA3 mutation revealed by exome sequencing: An example of reverse phenotypingKumar, Kishore Raj; Arif, Beenish; Bruggemann, Anne; et al, Various; Fatima, Amara; Jamil, Ahmad Zeeshan; Nurnberg, Gudrun; Nurnberg, Peter; Seibler, Philip; Thiele, Holger; Vulinovic, Franca; Winkler, Susen; Northern Clinical School: Kolling InstituteA novel OPA3 mutation revealed by exome sequencing: An example of reverse phenotyping, JAMA Neurology (formerly Archives of Neurology), vol.70, 6, 2013,pp 783-787