HiperCKemia paucisintomática secundaria a mutación en el gen ANO5

by C. Alcahut-Rodríguez, I. Díaz-Maroto, A. Fernández-Marmiesse, J. García-García
Published 2020-09-01

Paucisymptomatic hyperCKaemia due to a mutation in the ANO5 gene

by C. Alcahut-Rodríguez, I. Díaz-Maroto, A. Fernandez-Marmiesse, J. García-García
Published 2020-09-01

Septo-optic dysplasia caused by a novel FLNA splice site mutation: a case report

by A. Fernández-Marmiesse, M. S. Pérez-Poyato, A. Fontalba, E. Marco de Lucas, M. T. Martínez, M. J. Cabero Pérez, M. L. Couce
Published 2019-06-01