Publications by the researcher in collaboration with Ana Fernández Marmiesse (2)

2019

  1. A de novo heterozygous missense BSCL2 variant in 2 siblings with intractable developmental and epileptic encephalopathy

    Seizure, Vol. 71, pp. 161-165

2016

  1. Type 1 familial partial lipodystrophy: understanding the Köbberling syndrome

    Endocrine, Vol. 54, Núm. 2, pp. 411-421