Last Updated: 09/26/2026
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Found 36 publications
Impact of Preexisting Rare Diseases on COVID-19 Severity, Reinfection, and Long COVID, and the Modifying Effects of Vaccination and Antiviral Therapy: A Retrospective Study from the N3C Data Enclave.
Journal: medRxiv : the preprint server for health sciences
Published: July 17, 2025
CURE ID: A Platform to Collect Real-World Treatment Data for Drug Repurposing in Rare Genetic Disorders.
Journal: American journal of medical genetics. Part C, Seminars in medical genetics
Published: June 30, 2025
Treatment of Cutaneous Neurofibromas in Neurofibromatosis Type 1 With MEK Inhibitor Selumetinib: A Nonrandomized Clinical Trial.
Journal: JAMA dermatology
Published: February 26, 2025
International workshop: what is needed to ensure outcome measures for Rett syndrome are fit-for-purpose for clinical trials? June 7, 2023, Nashville, USA.
Journal: Trials
Published: September 12, 2024
Human papillomavirus disease in GATA2 deficiency: a genetic predisposition to HPV-associated female anogenital malignancy.
Journal: Frontiers in immunology
Published: June 07, 2024
Characterizing the journey of Rett syndrome among females in the United States: a real-world evidence study using the Rett syndrome natural history study database.
Journal: Journal of neurodevelopmental disorders
Published: February 05, 2024
Development and pilot validation of a novel disfigurement severity scale for plexiform neurofibromas in children with neurofibromatosis type 1.
Journal: Clinical trials (London, England)
Published: October 25, 2023
A core outcome domain set to assess cutaneous neurofibromas related to neurofibromatosis type 1 in clinical trials.
Journal: The British journal of dermatology
Published: July 07, 2023
Perspectives of adolescents with neurofibromatosis 1 and cutaneous neurofibromas: Implications for clinical trials.
Journal: Clinical trials (London, England)
Published: June 03, 2023
Anakinra for refractory pustular psoriasis: A phase II, open-label, dose-escalation trial.
Journal: Journal of the American Academy of Dermatology
Published: March 18, 2022
Last Updated: 09/26/2026