Genotypes of patients with phenylalanine hydroxylase deficiency in the Wisconsin Amish

by Jessica Scott Schwoerer, Nicoletta Drilias, Ashley Kuhl, Sean Mochal, Mei Baker
Published 2018-06-01

Familial segregation of a 5q15‐q21.2 deletion associated with facial dysmorphism and speech delay

by Cinthya Zepeda‐Mendoza, McKinsey L. Goodenberger, Ashley Kuhl, Gregory M. Rice, Nicole Hoppman
Published 2019-06-01

No association between SCN9A and monogenic human epilepsy disorders.

by James Fasham, Joseph S Leslie, Jamie W Harrison, James Deline, Katie B Williams, Ashley Kuhl, Jessica Scott Schwoerer, Harold E Cross, Andrew H Crosby, Emma L Baple
Published 2020-11-01