Multiple Skin Adnexal Tumours with Possible Syndromic Association. [PDF]
Sridhar J +4 more
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Predictors in Optic Pathway Gliomas in Neurofibromatosis Type 1: A Single Center Study. [PDF]
Marjańska A +5 more
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Café-Au-Lait Macules in Neurofibromatosis Type 1: Birthmark or Biomarker? [PDF]
Santangelo A +7 more
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(Not) "just your nature". Diagnostic journeys of adults with neurofibromatosis type 1 in Poland. [PDF]
Kowal K, Domaradzki J.
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Molecular and Clinical Profiles of Patients with RASopathies: Targeted Next-Generation Sequencing Panel Results and Identification of 14 Novel Disease-Causing Variants. [PDF]
Ates K +12 more
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Accounting for Biological Sex and Gender Identity in the Pathogenesis, Artistic Depictions, and Quality of Life in Neurofibromatosis Type 1. [PDF]
Kuchimanchi N, McKay RM, Le LQ.
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Reassessment of variants of uncertain significance in tumor suppressor genes using new ClinGen PP1/PP4 criteria guidance. [PDF]
Kim YG, Ha C, Jang JH, Jang MA, Kim JW.
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Painful pink papules and nodules presenting in a Blaskoid distribution. [PDF]
Hauptman M, Nakamura M, Goldfarb M.
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