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Unraveling cardiac anomalies in pediatric neurofibromatosis type 1: insights and implications. [PDF]
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RENOVO-NF1 accurately predicts NF1 missense variant pathogenicity. [PDF]
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From genes to therapy: navigating the complex landscape of neurofibromatosis management in Canada through advanced diagnostic, targeted therapies, and holistic care. [PDF]
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Laryngeal neurofibroma: case report and review of the literature. [PDF]
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History and clinical epidemiology of NF2-related schwannomatosis. [PDF]
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Beyond the Globe: Molecular Diagnostics of Optic Nerve, Orbital, and Adnexal Neoplasms. [PDF]
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Outcomes following definitive treatment of malignant peripheral nerve sheath tumor are significantly worse for patients with neurofibromatosis type 1: A Canadian Sarcoma Research and Clinical Collaboration study. [PDF]
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Ataluren-Induced Functional Restoration of Neurofibromin in Fibroblasts From Neurofibromatosis Type 1 Patients With Nonsense Mutations. [PDF]
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