RNA analysis of intronic variants in the LAMA2 gene detected by whole genome sequencing confirms a rare dual diagnosis of incontinentia pigmenti with limb‐girdle muscular dystrophy...

por Washington, Camerun, Stolerman, Elliot S., Cooley‐Coleman, Jessica A., Jones, Julie R., Chen‐Deutsch, Xiangwen
Publicado 2023

Tremors: A concept analysis

por Cooley Coleman, Jessica A., Sarasua, Sara M., Boccuto, Luigi, Moore, Hannah W., Skinner, Steven A., DeLuca, Jane M.
Publicado 2021

Clinical findings from the landmark MEF2C ‐related disorders natural history study

por Cooley Coleman, Jessica A., Sarasua, Sara M., Moore, Hannah Warren, Boccuto, Luigi, Cowan, Christopher W., Skinner, Steven A., DeLuca, Jane M.
Publicado 2022

RNA analysis of the GALNS transcript reveals novel pathogenic mechanisms associated with Morquio syndrome A

por Sohn, Young Bae, Rogers, Curtis, Stallworth, Jennifer, Cooley Coleman, Jessica A., Buch, Laura, Jozwiak, Erin, Johnson, Jo Ann, Wood, Tim, Harmatz, Paul, Pollard, Laura, Louie, Raymond J.
Publicado 2022