1. Comment: Novel mutations in the OPN1LW and NR2R3 genes in a patient with blue cone monochromacy. (2nd November 2019) Authors: Escher, Pascal Journal: Ophthalmic genetics Issue: Volume 40:Number 6(2019) Page Start: 591 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. QOL-23. TOWARDS PATIENT-REPORTED OUTCOME ASSESSMENT IN THE MOLECULAR TUMOR BOARD – CANCER PATIENTS UNDER TARGETED THERAPY: APP-BASED ASSESSMENT OF PATIENT-REPORTED OUTCOMES (TRACE). (14th November 2022) Authors: Renovanz, Mirjam; Bombach, Paula; Grosse, Lucia; Rieger, Johannes; Skardelly, Marco; Rieger, David; Hille, Hanni; Volkmer, Sebastian; Dörner, Lorenz; Kurz, Sylvia; Hippler, Melina; Paulsen, Frank; Öner, Öznur; Ruhm, Kristina; Beha, Janina; Sundberg-Malek, Holly; Möller, Yvonne; Tatagiba, Marcos; ... Journal: Neuro-oncology Issue: Volume 24(2022)Supplement 7 Page Start: vii246 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Longitudinal case study and phenotypic multimodal characterization of McArdle disease-linked retinopathy: insight into pathomechanisms. (2nd January 2020) Authors: Vaclavik, Veronika; Naderi, Francine; Schaller, André; Escher, Pascal Journal: Ophthalmic genetics Issue: Volume 41:Number 1(2020) Page Start: 73 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. IROme, a New High-Throughput Molecular Tool for the Diagnosis of Inherited Retinal Dystrophies. (26th December 2012) Authors: Schorderet, Daniel F.; Iouranova, Alexandra; Favez, Tatiana; Tiab, Leila; Escher, Pascal Other Names: Toruner Gokce A. Academic Editor. Journal: BioMed research international Issue: Volume 2013(2013) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Coupling ex vivo electroporation of mouse retinas and luciferase reporter assays to assess rod-specific promoter activity. (July 2016) Authors: Boulling, Arnaud; Escher, Pascal Journal: Experimental eye research Issue: Volume 148(2016:Jul.) Page Start: 79 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Coupling ex vivo electroporation of mouse retinas and luciferase reporter assays to assess rod-specific promoter activity. (July 2016) Authors: Boulling, Arnaud; Escher, Pascal Journal: Experimental eye research Issue: Volume 148(2016:Jul.) Page Start: 79 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Variability in clinical phenotypes of PRPF8-linked autosomal dominant retinitis pigmentosa correlates with differential PRPF8/SNRNP200 interactions. (2nd January 2018) Authors: Escher, Pascal; Passarin, Olga; Munier, Francis L.; Tran, Viet H.; Vaclavik, Veronika Journal: Ophthalmic genetics Issue: Volume 39:Number 1(2018) Page Start: 80 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Differential Dimerization of Variants Linked to Enhanced S‐Cone Sensitivity Syndrome (ESCS) Located in the NR2E3 Ligand‐Binding Domain. Issue 6 (27th April 2015) Authors: von Alpen, Désirée; Tran, Hoai Viet; Guex, Nicolas; Venturini, Giulia; Munier, Francis L.; Schorderet, Daniel F.; Haider, Neena B.; Escher, Pascal Journal: Human mutation Issue: Volume 36:Issue 6(2015:Jun.) Page Start: 599 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. C.-61G>A in OVOL2 is a Pathogenic 5′ Untranslated Region Variant Causing Posterior Polymorphous Corneal Dystrophy 1. Issue 1 (January 2022) Authors: Janeschitz-Kriegl, Lucas; Kamdar, Dhryata; Quinodoz, Mathieu; Kaminska, Karolina; Folcher, Marc; György, Bence; Meyer, Peter; Wild, Andreas; Escher, Pascal; Scholl, Hendrik P. N.; Rivolta, Carlo; Goldblum, David Journal: Cornea Issue: Volume 41:Issue 1(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. C.-61G>A in OVOL2 is a Pathogenic 5′ Untranslated Region Variant Causing Posterior Polymorphous Corneal Dystrophy 1. Issue 1 (30th January 2022) Authors: Janeschitz-Kriegl, Lucas; Kamdar, Dhryata; Quinodoz, Mathieu; Kaminska, Karolina; Folcher, Marc; György, Bence; Meyer, Peter; Wild, Andreas; Escher, Pascal; Scholl, Hendrik P. N.; Rivolta, Carlo; Goldblum, David Journal: Cornea Issue: Volume 41:Issue 1(2022) Page Start: 89 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗