1. A new mutation in enhanced S‐cone syndrome. Issue 4 (29th August 2016) Authors: Termühlen, Julia; Alex, Anne F.; Glöckle, Nicola; Kellner, Ulrich; Fiedler, Barbara; Eter, Nicole; Uhlig, Constantin E. Journal: Acta ophthalmologica Issue: Volume 96:Issue 4(2018) Page Start: e539 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Frequent genes in rare diseases: panel‐based next generation sequencing to disclose causal mutations in hereditary neuropathies. Issue 5 (7th November 2017) Authors: Dohrn, Maike F.; Glöckle, Nicola; Mulahasanovic, Lejla; Heller, Corina; Mohr, Julia; Bauer, Christine; Riesch, Erik; Becker, Andrea; Battke, Florian; Hörtnagel, Konstanze; Hornemann, Thorsten; Suriyanarayanan, Saranya; Blankenburg, Markus; Schulz, Jörg B.; Claeys, Kristl G.; Gess, Burkhard; Katon... Journal: Journal of neurochemistry Issue: Volume 143:Issue 5(2017) Page Start: 507 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Phenotype variations of retinal dystrophies caused by mutations in the RLBP1 gene. (27th November 2014) Authors: Hipp, Stephanie; Zobor, Gergely; Glöckle, Nicola; Mohr, Julia; Kohl, Susanne; Zrenner, Eberhart; Weisschuh, Nicole; Zobor, Ditta Journal: Acta ophthalmologica Issue: Volume 93:Number 4(2015) Page Start: e281 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗