Reply to: comment on Trujillo-Tiebas MJ et al. J Assist Reprod Genet DOI 10.1007/s10815-009-9339-1

Por Trujillo-Tiebas, Maria José, Fenollar-Cortés, María, Ramos-Corrales, Carmen
Publicado em 2009

MECP2 Duplications in Symptomatic Females: Report on 3 Patients Showing the Broad Phenotypic Spectrum

Por San Antonio-Arce, Victoria, Fenollar-Cortés, María, Oancea Ionescu, Raluca, DeSantos-Moreno, Teresa, Gallego-Merlo, Jesús, Illana Cámara, Francisco José, Cotarelo Pérez, María Carmen
Publicado no Child Neurol Open (2016)

The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: data from individual patients and family studies

Por Ferreira, Susana, Ortiz, Alberto, Germain, Dominique P., Viana-Baptista, Miguel, Gomes, António Caldeira, Camprecios, Marta, Fenollar-Cortés, Maria, Gallegos-Villalobos, Ángel, Garcia, Diego, García-Robles, José Antonio, Egido, Jesús, Gutiérrez-Rivas, Eduardo, Herrero, José Antonio, Mas, Sebastián, Oancea, Raluca, Péres, Paloma, Salazar-Martín, Luis Manuel, Solera-Garcia, Jesús, Alves, Helena, Garman, Scott C., Oliveira, João Paulo
Publicado no Mol Genet Metab (2014)