Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 113 publications
Harmonizing Multi-Institutional Clinical Documentation Using Natural Language Processing in Neurofibromatosis Type 1.
Journal: Neurology. Clinical practice
Published: August 12, 2026
Clinical and Functional Characterization of Gain-of-Function ABL1 Variants Expands the Phenotypic Spectrum of CHDSKM.
Journal: American journal of medical genetics. Part A
Published: July 30, 2026
Clinical Experience With Eliglustat in Children With Gaucher Disease Type 1.
Journal: American journal of medical genetics. Part A
Published: April 27, 2026
Real-world experience with sepiapterin in phenylketonuria: A single-center retrospective analysis.
Journal: Molecular genetics and metabolism
Published: April 02, 2026
The Evaluation of Molecular Genetics and Clinical Manifestations in Patients With LZTR1-Associated Noonan Syndrome: A Retrospective Chart Review and Review of Literature.
Journal: American journal of medical genetics. Part A
Published: April 01, 2026
A Randomized, Double-Blind, Pilot Study of N-Acetylcysteine for Motor and Cognitive Symptoms in Youth With Neurofibromatosis Type 1.
Journal: Pediatric neurology
Published: March 24, 2026
Genetic activation of ERK2 recapitulates core neurodevelopmental features of Rasopathy syndromes in mice.
Journal: bioRxiv : the preprint server for biology
Published: December 25, 2025
Rising Inpatient Demands for Inherited Metabolic Disorders: Impact on Pediatric Capacity.
Journal: American journal of medical genetics. Part A
Published: December 16, 2025
Differences in Optic Pathway Glioma Prevalence Among Children with Neurofibromatosis Type 1.
Journal: The Journal of pediatrics
Published: December 09, 2025
Last Updated: 09/26/2026