1. Compound heterozygous RPE65 mutations associated with an early onset autosomal recessive retinitis pigmentosa. (20th June 2020) Authors: Owczarek‐Lipska, Marta; Song, Fei; Jakšić, Vesna; Neidhardt, John Journal: Journal of gene medicine Issue: Volume 22:Number 10(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Cover Image. Issue 4 (1st April 2022) Authors: Gross, Isabel; Tschigor, Tabea; Salman, Angelina L.; Yang, Fan; Luo, Jiankai; Vonk, Danara; Hipp, Mark S.; Neidhardt, John; Bräuer, Anja U. Journal: Developmental dynamics Issue: Volume 251:Issue 4(2022) Page Start: i Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Dominant optic atrophy: Culprit mitochondria in the optic nerve. (July 2021) Authors: Lenaers, Guy; Neutzner, Albert; Le Dantec, Yannick; Jüschke, Christoph; Xiao, Ting; Decembrini, Sarah; Swirski, Sebastian; Kieninger, Sinja; Agca, Cavit; Kim, Ungsoo S.; Reynier, Pascal; Yu-Wai-Man, Patrick; Neidhardt, John; Wissinger, Bernd Journal: Progress in retinal and eye research Issue: Volume 83(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. GRIN2B mutations in west syndrome and intellectual disability with focal epilepsy. Issue 1 (2nd January 2014) Authors: Lemke, Johannes R.; Hendrickx, Rik; Geider, Kirsten; Laube, Bodo; Schwake, Michael; Harvey, Robert J.; James, Victoria M.; Pepler, Alex; Steiner, Isabelle; Hörtnagel, Konstanze; Neidhardt, John; Ruf, Susanne; Wolff, Markus; Bartholdi, Deborah; Caraballo, Roberto; Platzer, Konrad; Suls, Arvid; De,... Journal: Annals of neurology Issue: Volume 75:Issue 1(2014:Jan.) Page Start: 147 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome. Issue 12 (11th September 2019) Authors: Courage, Carolina; Jackson, Christopher B.; Owczarek‐Lipska, Marta; Jamsheer, Aleksander; Sowińska‐Seidler, Anna; Piotrowicz, Małgorzata; Jakubowski, Lucjusz; Dallèves, Fanny; Riesch, Erik; Neidhardt, John; Lemke, Johannes R. Journal: American journal of medical genetics Issue: Volume 179:Issue 12(2019) Page Start: 2447 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Rare variants in the GABAA receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypes. Issue 9 (25th June 2020) Authors: Markus, Fenja; Angelini, Chloé; Trimouille, Aurelien; Rudolf, Gabrielle; Lesca, Gaetan; Goizet, Cyril; Lasseaux, Eulalie; Arveiler, Benoit; van Slegtenhorst, Marjon; Brooks, Alice S.; Abou Jamra, Rami; Korenke, Georg‐Christoph; Neidhardt, John; Owczarek‐Lipska, Marta Journal: Molecular genetics & genomic medicine Issue: Volume 8:Issue 9(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Systematic expression analysis of plasticity‐related genes in mouse brain development brings PRG4 into play. Issue 4 (16th October 2021) Authors: Gross, Isabel; Tschigor, Tabea; Salman, Angelina L.; Yang, Fan; Luo, Jiankai; Vonk, Danara; Hipp, Mark S.; Neidhardt, John; Bräuer, Anja U. Journal: Developmental dynamics Issue: Volume 251:Issue 4(2022) Page Start: 714 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗