Last Updated: 09/26/2026
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Found 10 publications
Targeted Therapies in Neurofibromatosis Type 1.
Journal: American journal of medical genetics. Part C, Seminars in medical genetics
Published: January 25, 2025
Evaluation of Targeted Therapies Currently Available for Congenital Genetic Conditions Indexed in GeneReviews.
Journal: American journal of medical genetics. Part C, Seminars in medical genetics
Published: December 18, 2024
Genetic aortic disease epidemiology, management principles, and disparities in care.
Journal: Seminars in vascular surgery
Published: March 24, 2021
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.
Journal: Human mutation
Published: May 31, 2019
Molecular genetic testing for hereditary ataxia: What every neurologist should know.
Journal: Neurology. Clinical practice
Published: March 09, 2018
Recessive mutations in VPS13D cause childhood onset movement disorders.
Journal: Annals of neurology
Published: November 10, 2017
High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.
Journal: Human mutation
Published: March 20, 2015
Improving the value of costly genetic reference laboratory testing with active utilization management.
Journal: Archives of pathology & laboratory medicine
Published: January 01, 2014
A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations.
Journal: Neuromuscular disorders : NMD
Published: September 28, 2013
Showing 1-10 of 10
Last Updated: 09/26/2026