1. Burosumab in management of X-linked hypophosphataemia: a retrospective cohort study of growth and serum phosphate levels. Issue 5 (30th January 2023) Authors: Walker, Emma Yi Xiu; Lindsay, Timothy Alexander James; Allgrove, Jeremy; Marlais, Matko; Bockenhauer, Detlef; Hayes, Wesley Journal: Archives of disease in childhood Issue: Volume 108:Issue 5(2023) Page Start: 379 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Distal renal tubular acidosis: ERKNet/ESPN clinical practice points. Issue 9 (29th April 2021) Authors: Trepiccione, Francesco; Walsh, Steven B; Ariceta, Gema; Boyer, Olivia; Emma, Francesco; Camilla, Roberta; Ferraro, Pietro Manuel; Haffner, Dieter; Konrad, Martin; Levtchenko, Elena; Lopez-Garcia, Sergio Camilo; Santos, Fernando; Stabouli, Stella; Szczepanska, Maria; Tasic, Velibor; Topaloglu, Rez... Journal: Nephrology dialysis transplantation Issue: Volume 36:Issue 9(2021) Page Start: 1585 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. 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) ↗
4. FC 132SHORT COURSE DAILY LOW-DOSE PREDNISOLONE AT THE TIME OF UPPER RESPIRATORY TRACT INFECTION (URTI) IN NON-SELECTED CHILDREN WITH RELAPSING STEROID SENSITIVE NEPHROTIC SYNDROME DOES NOT PREVENT URTI-RELATED RELAPSE: THE PREDNOS 2 TRIAL. (29th May 2021) Authors: Christian, Martin; Webb, Nicholas; Mehta, Samir; Nafsika, Afentou; Woolley, Rebecca; Frew, Emma; Brettell, Elizabeth; Khan, Adam; Milford, David; Bockenhauer, Detlef; Saleem, Moin A; Hall, Angela; Koziell, Ania; Maxwell, Heather; Hegde, Shivaram; Prajapati, Hitesh; Gilbert, Rodney; Jones, Carolin... 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) ↗
5. Founder mutation in KCNJ10 in Pakistani patients with EAST syndrome. Issue 5 (7th June 2016) Authors: Abdelhadi, Ola; Iancu, Daniela; Tekman, Mehmet; Stanescu, Horia; Bockenhauer, Detlef; Kleta, Robert Journal: Molecular genetics & genomic medicine Issue: Volume 4:Issue 5(2016) Page Start: 521 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. Functional assessment of variants associated with Wolfram syndrome. (10th October 2019) Authors: Riachi, Melissa; Yilmaz, Sebahat; Kurnaz, Erdal; Aycan, Zehra; Çetinkaya, Semra; Tranebjærg, Lisbeth; Rendtorff, Nanna Dahl; Bitner-Glindzicz, Maria; Bockenhauer, Detlef; Hussain, Khalid Journal: Human molecular genetics Issue: Volume 28:Number 22(2019) Page Start: 3815 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Genetic forms of nephrogenic diabetes insipidus (NDI): Vasopressin receptor defect (X-linked) and aquaporin defect (autosomal recessive and dominant). Issue 2 (March 2016) Authors: Bichet, Daniel G.; Bockenhauer, Detlef Journal: Best practice & research Issue: Volume 30:Issue 2(2016) Page Start: 263 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. 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) ↗
10. 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) ↗