Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy
Edgar A. Otto(University of Michigan), Jan Halbritter(Charité - Universitätsmedizin Berlin), Neveen A. Soliman(Cairo University), Daniela A. Braun(University Hospital Münster), Moumita Chaki(University of Michigan), Stefan Kohl(Boston Children's Hospital), Jonathan D. Porath, Friedhelm Hildebrandt(Boston Children's Hospital), Susan J. Allen(University of Michigan), Katrina A. Diaz(University of Michigan)
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