The uneven consequences of rapid organizational change: COVID-19 and healthcare workers()

por Shuster, Stef M., Lubben, Noah
Publicado 2022

Genetic diagnosis of familial hypercholesterolaemia by targeted next-generation sequencing

por Maglio, C, Mancina, R M, Motta, B M, Stef, M, Pirazzi, C, Palacios, L, Askaryar, N, Borén, J, Wiklund, O, Romeo, S
Publicado 2014

p.(Asp47Asn) and p.(Thr62Met): non deleterious LDL receptor missense variants functionally characterized in vitro

por Benito-Vicente, A., Siddiqi, H., Uribe, K. B., Jebari, S., Galicia-Garcia, U., Larrea-Sebal, A., Stef, M., Ostolaza, H., Palacios, L., Martin, C.
Publicado 2018

Replacement of cysteine at position 46 in the first cysteine-rich repeat of the LDL receptor impairs apolipoprotein recognition

por Benito-Vicente, A., Uribe, K. B., Siddiqi, H., Jebari, S., Galicia-Garcia, U., Larrea-Sebal, A., Cenarro, A., Stef, M., Ostolaza, H., Civeira, F., Palacios, L., Martin, C.
Publicado 2018