1. Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome. (8th August 2013) Authors: Cross, J Helen; Arora, Ruchi; Heckemann, Rolf A; Gunny, Roxana; Chong, Kling; Carr, Lucinda; Baldeweg, Torsten; Differ, Ann‐Marie; Lench, Nicholas; Varadkar, Sophie; Sirimanna, Tony; Wassmer, Evangeline; Hulton, Sally A; Ognjanovic, Milos; Ramesh, Venkateswaran; Feather, Sally; Kleta, Robert; Ham... Journal: Developmental medicine & child neurology Issue: Volume 55:Number 9(2013:Sep.) Page Start: 846 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Urea is successful in treating inappropriate antidiuretic hormone secretion in an infant. (4th January 2017) Authors: Dufek, Stephanie; Booth, Christine; Carroll, Adrian; van't Hoff, William; Kleta, Robert; Bockenhauer, Detlef Journal: Acta pædiatrica Issue: Volume 106:Number 3(2017) Page Start: 513 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Treatment and long-term outcome in primary distal renal tubular acidosis. Issue 6 (18th February 2019) Authors: Lopez-Garcia, Sergio Camilo; Emma, Francesco; Walsh, Stephen B; Fila, Marc; Hooman, Nakysa; Zaniew, Marcin; Bertholet-Thomas, Aurélia; Colussi, Giacomo; Burgmaier, Kathrin; Levtchenko, Elena; Sharma, Jyoti; Singhal, Jyoti; Soliman, Neveen A; Ariceta, Gema; Basu, Biswanath; Murer, Luisa; Tasic, Ve... Journal: Nephrology dialysis transplantation Issue: Volume 34:Issue 6(2019) Page Start: 981 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Genetics of membranous nephropathy. Issue 9 (6th November 2017) Authors: Gupta, Sanjana; Köttgen, Anna; Hoxha, Elion; Brenchley, Paul; Bockenhauer, Detlef; Stanescu, Horia C; Kleta, Robert Journal: Nephrology dialysis transplantation Issue: Volume 33:Issue 9(2018) Page Start: 1493 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. SuO037LONG-TERM OUTCOME IN NEPHROGENIC DIABETES INCIPIDUS. (18th May 2018) Authors: Sharma, Sonia; van't Hoff, William; Kleta, Robert; Bichet, D; Bockenhauer, Detlef Journal: Nephrology dialysis transplantation Issue: Volume 33(2018)Supplement 1 Page Start: i631 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Founder mutation in the PMM2 promotor causes hyperinsulinemic hypoglycaemia/polycystic kidney disease (HIPKD). Issue 12 (3rd April 2021) Authors: Islam, Sumaya; Tekman, Mehmet; Flanagan, Sarah E.; Guay‐Woodford, Lisa; Hussain, Khalid; Ellard, Sian; Kleta, Robert; Bockenhauer, Detlef; Stanescu, Horia; Iancu, Daniela Journal: Molecular genetics & genomic medicine Issue: Volume 9:Issue 12(2021) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Genetics of renovascular hypertension in children. Issue 10 (October 2020) Authors: Viering, Daan H.H.M.; Chan, Melanie M.Y.; Hoogenboom, Lieke; Iancu, Daniela; de Baaij, Jeroen H.F.; Tullus, Kjell; Kleta, Robert; Bockenhauer, Detlef Journal: Journal of hypertension Issue: Volume 38:Issue 10(2020:Oct.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. HEROIC: a 5-year observational cohort study aimed at identifying novel factors that drive diabetic kidney disease: rationale and study protocol. Issue 9 (9th September 2020) Authors: Mccafferty, Kieran; Caplin, Ben; Knight, Sinead; Hockings, Paul; Wheeler, David; Fan, Stanley L; Hulthe, Johannes; Kleta, Robert; Ashman, Neil; Papastefanou, Vasilios; Mehta, Hemal; Salama, Alan; Hadzovic, Sinela; Chowdhury, Tahseen Ahmad; Jarl, Lisa; Unwin, Robert; Challis, Benjamin; Sundgren, A... Journal: BMJ open Issue: Volume 10:Issue 9(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes. Issue 1 (December 2017) Authors: Le Quesne Stabej, Polona; James, Chela; Ocaka, Louise; Tekman, Mehmet; Grunewald, Stephanie; Clement, Emma; Stanescu, Horia; Kleta, Robert; Morrogh, Deborah; Calder, Alistair; Williams, Hywel; Bitner-Glindzicz, Maria Journal: Orphanet journal of rare diseases Issue: Volume 12:Issue 1(2017) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. EAST syndrome: Clinical, pathophysiological, and genetic aspects of mutations in KCNJ10. Issue 1 (1st January 2016) Authors: Abdelhadi, Ola; Iancu, Daniela; Stanescu, Horia; Kleta, Robert; Bockenhauer, Detlef Journal: Rare diseases Issue: Volume 4:Issue 1(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗