14q32.3 deletion syndrome with autism

GANAB-related Polycystic Kidney Disease Mimicking the Cutaneous Findings of Neurofibromatosis Type 1.

Kidney medicine·2026

NF2-related Schwannomatosis Diagnosed Before and After 30 Years of Age: Differences in Disease Presentation and Rates of Positive Genetic Testing.

Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology·2026

Report of Concomitant Intracranial Cysts in Unrelated Patients With Heterozygous Germline NF1 Pathogenic Variants.

Annals of internal medicine. Clinical cases·2026

"It's not any one thing, it's always all of them, all at the same time": quality of life in NF2-related schwannomatosis from patient and clinician perspectives.

Familial cancer·2025

Engagement of adolescents with ADHD in a narrative-centered game-based behavior change environment to reduce alcohol use.

Frontiers in education·2025