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Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 27, 2017
Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single centerThierry Vilboux, Daniel A Doherty, Ian A Glass, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 2, 2018
Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrumVictoria E R Parker, Kim M Keppler-Noreuil, Laurence Faivre, et al.Pageof 9