Publications
Export 3 results:
Filters: Keyword is Mutation and Author is Person, Richard [Clear All Filters]
Cation leak through the ATP1A3 pump causes spasticity and intellectual disability. Brain. 2023 ;146(8):3162-3171.
. Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies. Am J Hum Genet. 2018 ;102(5):985-994.
. Molecular findings among patients referred for clinical whole-exome sequencing. JAMA. 2014 ;312(18):1870-9.
.