Long-read single molecule real-time (SMRT) sequencing of GBA1 locus in Gaucher disease national cohort from Argentina reveals high frequency of complex allele underlying severe ske...

por Drelichman, Guillermo I., Fernández Escobar, Nicolas, Soberon, Barbara C., Basack, Nora F., Frabasil, Joaquin, Schenone, Andrea B., Aguilar, Gabriel, Larroudé, Maria S., Knight, James R., Zhao, Dejian, Ruan, Jiapeng, Mistry, Pramod K.
Publicado 2021

Case report: De novo SAMD9L truncation causes neonatal-onset autoinflammatory syndrome which was successfully treated with hematopoietic stem cell transplantation

por Caldirola, María Soledad, Seminario, Analía Gisela, Luna, Paula Carolina, Curciarello, Renata, Docena, Guillermo Horacio, Fernandez Escobar, Nicolás, Drelichman, Guillermo, Gattorno, Marco, de Jesus, Adriana A., Goldbach-Mansky, Raphaela, Gaillard, María Isabel, Bezrodnik, Liliana
Publicado 2023