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Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulinEdgar A. Otto, Friedhelm Hildebrandt, Bart Loeys et al.|Nature Genetics|2005Cited by 404
Evidence of Oligogenic Inheritance in NephronophthisisJulia Hoefele, Friedhelm Hildebrandt, Matthias T. F. Wolf et al.|Journal of the American Society of Nephrology|2007Cited by 146
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Mutation analysis of <i>NPHP6</i>/<i>CEP290</i> in patients with Joubert syndrome and Senior–Løken syndromeJosiane Hélou, Friedhelm Hildebrandt, Edgar A. Otto et al.|Journal of Medical Genetics|2007Cited by 109