Analysis of mutations in EXT1 and EXT2 in Brazilian patients with multiple osteochondromas

por Santos, Savana C. L., Rizzo, Isabela M. P. O., Takata, Reinaldo I., Speck‐Martins, Carlos E., Brum, Jaime M., Sollaci, Claudio
Publicado 2018

Modelling the pathogenesis of X-linked distal hereditary motor neuropathy using patient-derived iPSCs

por Perez-Siles, Gonzalo, Cutrupi, Anthony, Ellis, Melina, Kuriakose, Jakob, La Fontaine, Sharon, Mao, Di, Uesugi, Motonari, Takata, Reinaldo I., Speck-Martins, Carlos E., Nicholson, Garth, Kennerson, Marina L.
Publicado 2020

Early‐onset coenzyme Q10 deficiency associated with ataxia and respiratory chain dysfunction due to novel pathogenic COQ8A variants, including a large intragenic deletion

por Cotta, Ana, Alston, Charlotte L., Baptista‐Junior, Sidney, Paim, Julia F., Carvalho, Elmano, Navarro, Monica M., Appleton, Marie, Ng, Yi Shiau, Valicek, Jaquelin, da‐Cunha‐Junior, Antonio L., Lima, Maria I., de la Rocque Ferreira, Alessandra, Takata, Reinaldo I., Hargreaves, Iain P., Gorman, Gráinne S., McFarland, Robert, Pierre, Germaine, Taylor, Robert W.
Publicado 2020