Publications
Export 3 results:
Filters: Author is Nelson, Stanley F [Clear All Filters]
A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders. Hum Mutat. 2020 ;41(2):487-501.
. .
A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay. Am J Hum Genet. 2017 ;100(2):343-351.
.