1. Diagnosis of monogenic liver diseases in childhood by next‐generation sequencing. Issue 3 (12th December 2017) Authors: Stalke, A.; Skawran, B.; Auber, B.; Illig, T.; Schlegelberger, B.; Junge, N.; Goldschmidt, I.; Leiskau, C.; von Neuhoff, N.; Baumann, U.; Pfister, E.‐D. Journal: Clinical genetics Issue: Volume 93:Issue 3(2018) Page Start: 665 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Rare compound heterozygous variants in PNKP identified by whole exome sequencing in a German patient with ataxia‐oculomotor apraxia 4 and pilocytic astrocytoma. Issue 1 (2nd March 2018) Authors: Scholz, C.; Golas, M.M.; Weber, R.G.; Hartmann, C.; Lehmann, U.; Sahm, F.; Schmidt, G.; Auber, B.; Sturm, M.; Schlegelberger, B.; Illig, T.; Steinemann, D.; Hofmann, W. Journal: Clinical genetics Issue: Volume 94:Issue 1(2018) Page Start: 185 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗