Case Report: Identification of a Heterozygous XPA c.553C>T Mutation Causing Neurological Impairment in a Case of Xeroderma Pigmentosum Complementation Group A

por García-Carmona, Juan Antonio, Yousefzadeh, Matthew J., Alarcón-Soldevilla, Fernando, Fages-Caravaca, Eva, Kieu, Tra L., Witt, Mariah A., López-Ávila, Ángel, Niedernhofer, Laura J., Pérez-Vicente, José Antonio
Publicado 2021

Loss of DNA repair mechanisms in cardiac myocytes induce dilated cardiomyopathy

por Henpita, Chathurika, Vyas, Rajesh, Healy, Chastity L., Kieu, Tra L., Gurkar, Aditi U., Yousefzadeh, Matthew J., Cui, Yuxiang, Lu, Aiping, Angelini, Luise A., O'Kelly, Ryan D., McGowan, Sara J., Chandrasekhar, Sanjay, Vanderpool, Rebecca R., Hennessy‐Wack, Danielle, Ross, Mark A., Bachman, Timothy N., McTiernan, Charles, Pillai, Smitha P. S., Ladiges, Warren, Lavasani, Mitra, Huard, Johnny, Beer‐Stolz, Donna, St. Croix, Claudette M., Watkins, Simon C., Robbins, Paul D., Mora, Ana L., Kelley, Eric E., Wang, Yinsheng, O'Connell, Timothy D., Niedernhofer, Laura J.
Publicado 2023