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European Journal of Human Genetics : EJHG|July 19, 2025
A new multisystem ERCC1-hepatorenal syndrome: insights from a clinical cohort, molecular pathogenesis, and management guidelinesSusan M White, Annelotte P Wondergem, Isa Breet, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 31, 2024
Natural history of adults with KBG syndrome: A physician-reported experienceAllan Bayat, Hannah Grimes, Elke de Boer, et al.Pageof 3