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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
