1. A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants. Issue 11 (2nd November 2012) Authors: Sharma, Manu; Ioannidis, John P A; Aasly, Jan O; Annesi, Grazia; Brice, Alexis; Bertram, Lars; Bozi, Maria; Barcikowska, Maria; Crosiers, David; Clarke, Carl E; Facheris, Maurizio F; Farrer, Matthew; Garraux, Gaetan; Gispert, Suzana; Auburger, Georg; Vilariño-Güell, Carles; Hadjigeorgiou, Georgio... Journal: Journal of medical genetics Issue: Volume 49:Issue 11(2012) Page Start: 721 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A Recurrent VPS16 p.Arg187* Nonsense Variant in Early‐Onset Generalized Dystonia. Issue 8 (17th May 2021) Authors: Ostrozovicova, Miriama; Jech, Robert; Steel, Dora; Pavelekova, Petra; Han, Vladimir; Gdovinova, Zuzana; Lichtner, Peter; Kurian, Manju A.; Wiethoff, Sarah; Houlden, Henry; Havránková, Petra; Winkelmann, Julianne; Zech, Michael; Skorvanek, Matej Journal: Movement disorders Issue: Volume 36:Issue 8(2021) Page Start: 1984 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. An HDR (hypoparathyroidism, deafness, renal dysplasia) syndrome locus maps distal to the DiGeorge syndrome region on 10p13/14. Issue 1 (1st January 2000) Authors: Lichtner, Peter; König, Rainer; Hasegawa, Tomonobu; Van Esch, Hilde; Meitinger, Thomas; Schuffenhauer, Simone Journal: Journal of medical genetics Issue: Volume 37:Issue 1(2000) Page Start: 33 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Analysis for Genetic Modifiers of Disease Severity in Patients With Long-QT Syndrome Type 2. (June 2015) Authors: Kolder, Iris C.R.M.; Tanck, Michael W.T.; Postema, Pieter G.; Barc, Julien; Sinner, Moritz F.; Zumhagen, Sven; Husemann, Anja; Stallmeyer, Birgit; Koopmann, Tamara T.; Hofman, Nynke; Pfeufer, Arne; Lichtner, Peter; Meitinger, Thomas; Beckmann, Britt M.; Myerburg, Robert J.; Bishopric, Nanette H.;... Journal: Circulation Issue: Volume 8:Number 3(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Biallelic loss‐of‐function variants in RBL2 in siblings with a neurodevelopmental disorder. Issue 3 (27th February 2020) Authors: Brunet, Theresa; Radivojkov‐Blagojevic, Milena; Lichtner, Peter; Kraus, Verena; Meitinger, Thomas; Wagner, Matias Journal: Annals of clinical and translational neurology Issue: Volume 7:Issue 3(2020) Page Start: 390 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Dairy Intake and Parkinson's Disease: A Mendelian Randomization Study. Issue 4 (8th January 2022) Authors: Domenighetti, Cloé; Sugier, Pierre‐Emmanuel; Ashok Kumar Sreelatha, Ashwin; Schulte, Claudia; Grover, Sandeep; Mohamed, Océane; Portugal, Berta; May, Patrick; Bobbili, Dheeraj R.; Radivojkov‐Blagojevic, Milena; Lichtner, Peter; Singleton, Andrew B.; Hernandez, Dena G.; Edsall, Connor; Mellick, Ge... Journal: Movement disorders Issue: Volume 37:Issue 4(2022) Page Start: 857 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. De novo deletion (14)(q11.2q13) including PAX9: clinical and molecular findings. Issue 3 (1st March 1999) Authors: Schuffenhauer, Simone; Leifheit, Hans-Jürgen; Lichtner, Peter; Peters, Heiko; Murken, Jan; Emmerich, P Journal: Journal of medical genetics Issue: Volume 36:Issue 3(1999) Page Start: 233 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Development of a Fully Coupled Biogeochemical Reactive Transport Model to Simulate Microbial Oxidation of Organic Carbon and Pyrite Under Nitrate‐Reducing Conditions. Issue 11 (23rd November 2018) Authors: Knabe, Dustin; Kludt, Christoph; Jacques, Diederik; Lichtner, Peter; Engelhardt, Irina Journal: Water resources research Issue: Volume 54:Issue 11(2018) Page Start: 9264 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. DYT16 revisited: Exome sequencing identifies PRKRA mutations in a European dystonia family. Issue 12 (20th August 2014) Authors: Zech, Michael; Castrop, Florian; Schormair, Barbara; Jochim, Angela; Wieland, Thomas; Gross, Nadine; Lichtner, Peter; Peters, Annette; Gieger, Christian; Meitinger, Thomas; Strom, Tim M.; Oexle, Konrad; Haslinger, Bernhard; Winkelmann, Juliane Journal: Movement disorders Issue: Volume 29:Issue 12(2014) Page Start: 1504 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Evaluating model complexity in simulating supercritical CO2 dissolution, leakage, footprint, and reservoir pressure for three-dimensional hierarchical aquifer. (September 2017) Authors: Zhang, Mingkan; Zhang, Ye; Lichtner, Peter Journal: International journal of greenhouse gas control Issue: Volume 64(2017) Page Start: 284 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗