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Ashraf, Shazia; Hoskins, Bethan E; Chaib, Hassan; Hoefele, Julia; Pasch, Andreas; Saisawat, Pawaree; Trefz, Friedrich; Hacker, Hans W; Nuernberg, Gudrun; Nuernberg, Peter; Otto, Edgar A; Hildebrandt, Friedhelm (2010). Mapping of a new locus for congenital anomalies of the kidney and urinary tract on chromosome 8q24. Nephrology, dialysis, transplantation, 25(5), pp. 1496-501. Oxford: Oxford University Press 10.1093/ndt/gfp650
Hoefele, Julia; Wolf, Matthias T F; O'Toole, John F; Otto, Edgar A; Schultheiss, Ulla; Dêschenes, Georges; Attanasio, Massimo; Utsch, Boris; Antignac, Corinne; Hildebrandt, Friedhelm (2007). Evidence of oligogenic inheritance in nephronophthisis. Journal of the American Society of Nephrology, 18(10), pp. 2789-95. Hagerstown, Md.: Lippincott Williams & Wilkins 10.1681/ASN.2007020243
Helou, Juliana; Otto, Edgar A; Attanasio, Massimo; Allen, Susan J; Parisi, Melissa A; Glass, Ian; Utsch, Boris; Hashmi, Seema; Fazzi, Elisa; Omran, Heymut; O'Toole, John F; Sayer, John A; Hildebrandt, Friedhelm (2007). Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndrome. Journal of medical genetics, 44(10), pp. 657-63. London: BMJ Publishing Group 10.1136/jmg.2007.052027
