1. CRIM1 haploinsufficiency causes defects in eye development in human and mouse. (5th January 2015) Authors: Beleggia, Filippo; Li, Yun; Fan, Jieqing; Elcioğlu, Nursel H.; Toker, Ebru; Wieland, Thomas; Maumenee, Irene H.; Akarsu, Nurten A.; Meitinger, Thomas; Strom, Tim M.; Lang, Richard; Wollnik, Bernd Journal: Human molecular genetics Issue: Volume 24:Number 8(2015:Apr. 15) Page Start: 2267 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement. (13th March 2015) Authors: Haack, Tobias B.; Jackson, Christopher B.; Murayama, Kei; Kremer, Laura S.; Schaller, André; Kotzaeridou, Urania; de Vries, Maaike C.; Schottmann, Gudrun; Santra, Saikat; Büchner, Boriana; Wieland, Thomas; Graf, Elisabeth; Freisinger, Peter; Eggimann, Sandra; Ohtake, Akira; Okazaki, Yasushi; Kohd... Journal: Annals of clinical and translational neurology Issue: Volume 2:Number 5(2015:May) Page Start: 492 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts. Issue 1 (5th November 2015) Authors: Staufner, Christian; Haack, Tobias B.; Köpke, Marlies G.; Straub, Beate K.; Kölker, Stefan; Thiel, Christian; Freisinger, Peter; Baric, Ivo; McKiernan, Patrick J.; Dikow, Nicola; Harting, Inga; Beisse, Flemming; Burgard, Peter; Kotzaeridou, Urania; Lenz, Dominic; Kühr, Joachim; Himbert, Urban; Ta... Journal: Journal of inherited metabolic disease Issue: Volume 39:Issue 1(2016) Page Start: 3 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗