1. MO039IDENTIFICATION OF A RECURRENT SYNONYMOUS GENETIC VARIANT IN NPHP3 LEADING TO NEPHRONOPHTHISIS AND CONGENITAL HEPATIC FIBROSIS. (29th May 2021) Authors: Olinger, Eric; Al Alawi, Intisar; Molinari, Elisa; Ali Faqeih, Eissa; Al Hamed, Mohamed; Barroso-Gil, Miguel; Wilson, Ian; Research Consortium, Genomics England; Sayer, John 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) ↗
2. Molecular genetics of renal ciliopathies. (30th June 2021) Authors: Barroso-Gil, Miguel; Olinger, Eric; Sayer, John A. Journal: Biochemical Society transactions Issue: Volume 49:Number 3(2021) Page Start: 1205 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗