Caregiver‐reported clinical characteristics and the burden associated with Kabuki syndrome

por Theodore‐Oklota, Christina, Egan, Shayna, Paulich, Maggie, Evans, Christopher J., Hartman, Deborah S., Hoffman, Deborah L., Björnsson, Hans T.
Publicado 2020

Development of the pyruvate kinase deficiency diary and pyruvate kinase deficiency impact assessment: Disease‐specific assessments

por Salek, Sam, Boscoe, Audra N., Piantedosi, Sarah, Egan, Shayna, Evans, Christopher J, Wells, Ted, Cohen, Jennifer, Klaassen, Robert J., Grace, Rachael, Storm, Michael
Publicado 2020