1. A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome. (25th April 2017) Authors: Chatzispyrou, Iliana A.; Alders, Marielle; Guerrero-Castillo, Sergio; Zapata Perez, Ruben; Haagmans, Martin A.; Mouchiroud, Laurent; Koster, Janet; Ofman, Rob; Baas, Frank; Waterham, Hans R.; Spelbrink, Johannes N.; Auwerx, Johan; Mannens, Marcel M.; Houtkooper, Riekelt H.; Plomp, Astrid S. Journal: Human molecular genetics Issue: Volume 26:Number 13(2017:Jul. 01) Page Start: 2541 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Identification and characterization of Eci3, a murine kidney‐specific Δ3, Δ2‐enoyl‐CoA isomerase. Issue 3 (16th December 2013) Authors: van Weeghel, Michel; Ofman, Rob; Argmann, Carmen A.; Ruiter, Jos P. N.; Claessen, Nike; Oussoren, Saskia V.; Wanders, Ronald J. A.; Aten, Jan; Houten, Sander M. Journal: FASEB journal Issue: Volume 28:Issue 3(2014) Page Start: 1365 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Intellectual Disability and Hemizygous GPD2 Mutation. Issue 5 (29th March 2013) Authors: Barge‐Schaapveld, Daniela Q.C.M.; Ofman, Rob; Knegt, Alida C.; Alders, Mariëlle; Höhne, Wolfgang; Kemp, Stephan; Hennekam, Raoul C.M. Journal: American journal of medical genetics Issue: Volume 161:Issue 5(2013:May) Page Start: 1044 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗