1. 'Case of the Month' from the University Medicine Mannheim: managing a complex stone patient with recurrent stone formation. (12th April 2021) Authors: Knoll, Thomas; Halbritter, Jan Journal: BJU international Issue: Volume 127:Number 4(2021) Page Start: 402 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Autosomal dominant polycystic kidney disease in absence of renal cyst formation illustrates genetic interaction between WT1 and PKD1. Issue 2 (7th May 2020) Authors: Münch, Johannes; Kirschner, Karin M; Schlee, Hendrik; Kraus, Cornelia; Schönauer, Ria; Jin, Wenjun; Le Duc, Diana; Scholz, Holger; Halbritter, Jan Journal: Journal of medical genetics Issue: Volume 58:Issue 2(2021) Page Start: 140 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Claudin-10a Deficiency Shifts Proximal Tubular Cl- Permeability to Cation Selectivity via Claudin-2 Redistribution. Issue 4 (April 2022) Authors: Breiderhoff, Tilman; Himmerkus, Nina; Meoli, Luca; Fromm, Anja; Sewerin, Sebastian; Kriuchkova, Natalia; Nagel, Oliver; Ladilov, Yury; Krug, Susanne M.; Quintanova, Catarina; Stumpp, Meike; Garbe-Schönberg, Dieter; Westernströer, Ulrike; Merkel, Cosima; Brinkhus, Merle Annette; Altmüller, Janine;... Journal: Journal of the American Society of Nephrology Issue: Volume 33:Issue 4(2022) Page Start: 699 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Clinical, biochemical, and pathophysiological analysis of SLC34A1 mutations. Issue 12 (19th June 2018) Authors: Fearn, Amy; Allison, Benjamin; Rice, Sarah J.; Edwards, Noel; Halbritter, Jan; Bourgeois, Soline; Pastor‐Arroyo, Eva M.; Hildebrandt, Friedhelm; Tasic, Velibor; Wagner, Carsten A.; Hernando, Nati; Sayer, John A.; Werner, Andreas Journal: Physiological reports Issue: Volume 6:Issue 12(2018) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Diagnosing FSGS without kidney biopsy – a novel INF2-mutation in a family with ESRD of unknown origin. Issue 1 (December 2016) Authors: Münch, Johannes; Grohmann, Maik; Lindner, Tom; Bergmann, Carsten; Halbritter, Jan Journal: BMC medical genetics Issue: Volume 17:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Emicizumab treatment in chronic intermittent haemodialysis. Issue 1 (22nd October 2021) Authors: Weise, Maria; Siegemund, Annelie; Böhme, Lydia; Grey, Daniel; Halbritter, Jan; Petros, Sirak; Pfrepper, Christian Journal: Haemophilia Issue: Volume 28:Issue 1(2022) Page Start: e20 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. FC 011KIDNEYNETWORK: USING KIDNEY DERIVED GENE EXPRESSION DATA TO PREDICT AND PRIORITIZE NOVEL GENES INVOLVED IN KIDNEY DISEASE. (29th May 2021) Authors: Boulogne, Floranne; Claus, Laura; Wiersma, Henry; Oelen, Roy; Schukking, Floor; De Klein, Niek; Li, Shuang; Westra, Harm-Jan; Van der Zwaag, Bert; Van Reekum, Franka; Halbritter, Jan; Knoers, Nine; Research Consortium, Genomics England; Deelen, Patrick; Franke, Lude; Van Eerde, Albertien M Journal: Nephrology dialysis transplantation Issue: Volume 36(2021)Supplement 1 Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. FC 014INFLUENCE OF GENETIC VARIATION IN SLC7A13/AGT1 IN HUMAN CYSTINURIA. (29th May 2021) Authors: Schönauer, Ria; Seidel, Anna; Pöschla, Linda; Hantmann, Elena; Bekri, Soumeya; Knebelmann, Bertrand; Sayer, John; Ohgaki, Ryuichi; Halbritter, Jan Journal: Nephrology dialysis transplantation Issue: Volume 36(2021)Supplement 1 Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing. Issue 12 (27th November 2012) Authors: Halbritter, Jan; Diaz, Katrina; Chaki, Moumita; Porath, Jonathan D; Tarrier, Brendan; Fu, Clementine; Innis, Jamie L; Allen, Susan J; Lyons, Robert H; Stefanidis, Constantinos J; Omran, Heymut; Soliman, Neveen A; Otto, Edgar A Journal: Journal of medical genetics Issue: Volume 49:Issue 12(2012) Page Start: 756 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype. Issue 10 (14th August 2015) Authors: Perrault, Isabelle; Halbritter, Jan; Porath, Jonathan D; Gérard, Xavier; Braun, Daniela A; Gee, Heon Yung; Fathy, Hanan M; Saunier, Sophie; Cormier-Daire, Valérie; Thomas, Sophie; Attié-Bitach, Tania; Boddaert, Nathalie; Taschner, Michael; Schueler, Markus; Lorentzen, Esben; Lifton, Richard P; La... Journal: Journal of medical genetics Issue: Volume 52:Issue 10(2015) Page Start: 657 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗