1. Bestrophin 1 – Phenotypes and Functional Aspects in Bestrophinopathies. (3rd July 2015) Authors: Pasquay, Caroline; Wang, Lu Fei; Lorenz, Birgit; Preising, Markus N. Journal: Ophthalmic genetics Issue: Volume 36:Number 3(2015:Sep.) Page Start: 193 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Biallelic mutation of human SLC6A6 encoding the taurine transporter TAUT is linked to early retinal degeneration. Issue 10 (25th July 2019) Authors: Preising, Markus N.; Görg, Boris; Friedburg, Christoph; Qvartskhava, Natalia; Budde, Birgit S.; Bonus, Michele; Toliat, Mohammad R.; Pfleger, Christopher; Altmüller, Janine; Herebian, Diran; Beyer, Mila; Zöllner, Helge J.; Wittsack, Hans-Jörg; Schaper, Jörg; Klee, Dirk; Zechner, Ulrich; Nürnberg,... Journal: FASEB journal Issue: Volume 33:Issue 10(2019) Page Start: 11507 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Comprehensive Registration of DNA Sequence Variants Associated with Inherited Retinal Diseases in Leiden Open Variation Databases. Issue 1 (13th November 2013) Authors: Cremers, Frans P.M.; den Dunnen, Johan T.; Ajmal, Muhammad; Hussain, Alamdar; Preising, Markus N.; Daiger, Stephen P.; Qamar, Raheel Journal: Human mutation Issue: Volume 35:Issue 1(2014:Jan.) Page Start: 147 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2. (10th March 2017) Authors: Michalakis, Stylianos; Shaltiel, Lior; Sothilingam, Vithiyanjali; Koch, Susanne; Schludi, Verena; Krause, Stefanie; Zeitz, Christina; Audo, Isabelle; Lancelot, Marie-Elise; Hamel, Christian; Meunier, Isabelle; Preising, Markus N.; Friedburg, Christoph; Lorenz, Birgit; Zabouri, Nawal; Haverkamp, S... Journal: Human molecular genetics Issue: Volume 26:Number 2(2017:Jan. 15) Page Start: 466 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Ocular morphology and function in juvenile neuronal ceroid lipofuscinosis (CLN3) in the first decade of life. (4th May 2017) Authors: Preising, Markus N.; Abura, Michaela; Jäger, Melanie; Wassill, Klaus-Heiko; Lorenz, Birgit Journal: Ophthalmic genetics Issue: Volume 38:Number 3(2017) Page Start: 252 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Prevalence and Diagnostic Spectrum of Generalized Retinal Dystrophy in Danish Children. (June 2013) Authors: Bertelsen, Mette; Jensen, Hanne; Larsen, Michael; Lorenz, Birgit; Preising, Markus N.; Rosenberg, Thomas Journal: Ophthalmic epidemiology Issue: Volume 20:Number 3(2013) Page Start: 164 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Screening of a Large Cohort of Leber Congenital Amaurosis and Retinitis Pigmentosa Patients Identifies Novel LCA5 Mutations and New Genotype–Phenotype Correlations. Issue 1 (30th October 2013) Authors: Mackay, Donna S.; Borman, Arundhati Dev; Sui, Ruifang; van den, L. Ingeborgh; Berson, Eliot L.; Ocaka, Louise A.; Davidson, Alice E.; Heckenlively, John R.; Branham, Kari; Ren, Huanan; Lopez, Irma; Maria, Maleeha; Azam, Maleeha; Henkes, Arjen; Blokland, Ellen; Andreasson, [Sten; de, Elfride; Benn... Journal: Human mutation Issue: Volume 35:Issue 1(2014:Jan.) Page Start: 150 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Screening of a Large Cohort of Leber Congenital Amaurosis and Retinitis Pigmentosa Patients Identifies Novel LCA5 Mutations and New Genotype–Phenotype Correlations. Issue 11 (17th September 2013) Authors: Mackay, Donna S.; Borman, Arundhati Dev; Sui, Ruifang; van den, L. Ingeborgh; Berson, Eliot L.; Ocaka, Louise A.; Davidson, Alice E.; Heckenlively, John R.; Branham, Kari; Ren, Huanan; Lopez, Irma; Maria, Maleeha; Azam, Maleeha; Henkes, Arjen; Blokland, Ellen; Andreasson, Sten; de, Elfride; Benne... Journal: Human mutation Issue: Volume 34:Issue 11(2013:Nov.) Page Start: 1537 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Screening of a Large Cohort of Leber Congenital Amaurosis and Retinitis Pigmentosa Patients Identifies Novel LCA5 Mutations and New Genotype–Phenotype Correlations. Issue 11 (17th September 2013) Authors: Mackay, Donna S.; Borman, Arundhati Dev; Sui, Ruifang; van den Born, L. Ingeborgh; Berson, Eliot L.; Ocaka, Louise A.; Davidson, Alice E.; Heckenlively, John R.; Branham, Kari; Ren, Huanan; Lopez, Irma; Maria, Maleeha; Azam, Maleeha; Henkes, Arjen; Blokland, Ellen; Andreasson, Sten; de Baere, Elf... Journal: Human mutation Issue: Volume 34:Issue 11(2013:Nov.) Page Start: 1537 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗