1. Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings. Issue 1 (5th May 2012) Authors: Haack, Tobias B.; Rolinski, Boris; Haberberger, Birgit; Zimmermann, Franz; Schum, Jessica; Strecker, Valentina; Graf, Elisabeth; Athing, Uwe; Hoppen, Thomas; Wittig, Ilka; Sperl, Wolfgang; Freisinger, Peter; Mayr, Johannes A.; Strom, Tim M.; Meitinger, Thomas; Prokisch, Holger Journal: Journal of inherited metabolic disease Issue: Volume 36:Issue 1(2013) Page Start: 55 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. Issue 4 (12th April 2012) Authors: Haack, Tobias B; Haberberger, Birgit; Frisch, Eva-Maria; Wieland, Thomas; Iuso, Arcangela; Gorza, Matteo; Strecker, Valentina; Graf, Elisabeth; Mayr, Johannes A; Herberg, Ulrike; Hennermann, Julia B; Klopstock, Thomas; Kuhn, Klaus A; Ahting, Uwe; Sperl, Wolfgang; Wilichowski, Ekkehard; Hoffmann, ... Journal: Journal of medical genetics Issue: Volume 49:Issue 4(2012) Page Start: 277 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗