1. FC044: Heterozygous Variants in Kinase Domain of NEK8 cause an Autosomal-Dominant Ciliopathy. (3rd May 2022) Authors: Claus, Laura; Stallworth, Jennifer; van Jaarsveld, Richard; Turner, Joshu; Hawks, Alexandra; May, Melanie; Flanagan-Steet, Heather; Louie, Raymond; Silver, Josh; Lerner-Ellise, Jordan; Morel, Chantal; Mighton, Chloe; Ziegler, Alban; Barakat, Stefan; Dahan, Karin; Demoulin, Nathalie; Jean Goffin, ... Journal: Nephrology dialysis transplantation Issue: Volume 37(2022)Supplement 3 Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. SaO005CLINICAL PRESENTATION AND PROGNOSIS OF DNAJB11-ASSOCIATED NEPHROPATHY: AN INTERNATIONAL COLLABORATIVE STUDY. (13th June 2019) Authors: Huynh, Vinh Toan; Audrézet, Marie-Pierre; Domenger, Camille; Bridoux, Frank; Seret, Guillaume; Longuet, Hélène; Halimi, Jean-Michel; Genkyst, Study Group; Senum, Sarah; Pajot, Aurélie; Albaret, Julie; Ponlot, Eléonore; Férec, Claude; Eerde, Albertien M Van; Ong, Albert C; Harris, Peter C; Le Meur... Journal: Nephrology dialysis transplantation Issue: Volume 34(2019)Supplement 1 Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗