Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center

Thierry Vilboux, Daniel A. Doherty, Ian A. Glass, Melissa A. Parisi, Ian G. Phelps, Andrew R. Cullinane, Wadih Zein, Brian P. Brooks, Theo Heller, Ariane Soldatos, Neal L. Oden, Deniz Yildirimli, Meghana Vemulapalli, James C. Mullikin, May Christine V. Malicdan, William A. Gahl, Meral Gunay-Aygun

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Medicine & Life Sciences