Autor/in Tsiakas, Kostas Konstantinos Santer, René 2 Akman, Orhan H 1 Braulke, Thomas 1 Ding, Xiaoqi 1 Engel, Katharina 1 Ezaki, Junji 1 Ganesh, Jaya 1 Häberle, Johannes 1 Karadimas, Charalampos L 1 Klaus, Vera 1 Kohlschütter, Alfried 1 Kominami, Eiki 1 Largiadèr, Carlo R 1 Lukacs, Zoltan 1 Mühlhausen, Chris 1 Nuoffer, Jean-Marc 1 Salvatore, Di Mauro 1 Schaefer, Hansjoerg 1 Shanske, Sara 1 Spinazzola, Antonella 1 Steinfeld, Robert 1 Storch, Stephan 1 Ullrich, Kurt 1 Wermuth, Bendicht 1 Zeviani, Massimo 1 alle zeigenListe einklappen
Analysis of mRNA transcripts improves the success rate of molecular genetic testing in OTC deficiency. Engel, Katharina Nuoffer, Jean-Marc Mühlhausen, Chris Klaus, Vera Largiadèr, Carlo R Tsiakas, Kostas Konstantinos Santer, René 2008 - Forschungsinformationssystem des UKE
Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations. Spinazzola, Antonella Santer, René Akman, Orhan H Tsiakas, Kostas Konstantinos Schaefer, Hansjoerg Ding, Xiaoqi Karadimas, Charalampos L 2008 - Forschungsinformationssystem des UKE
Mutation of the glycosylated asparagine residue 286 in human CLN2 protein results in loss of enzymatic activity. Tsiakas, Kostas Konstantinos Steinfeld, Robert Storch, Stephan Ezaki, Junji Lukacs, Zoltan Kominami, Eiki Kohlschütter, Alfried 2004 - Forschungsinformationssystem des UKE
