The Reproductive Journey in the Genomic Era: From Preconception to Childhood

por Garcia-Herrero, Sandra, Simon, Blanca, Garcia-Planells, Javier
Publicado 2020

Prenatal screening and diagnosis of genetic abnormalities: SEGO, SEQC(ML), AEDP consensus recommendations

por Prieto, Belén, Adiego, Begoña, Suela, Javier, Martín, Inmaculada, Santacruz, Belén, García-Planells, Javier, Gil, Mar, González, Concepción, Eva Barrenechea
Publicado 2020

Cribado y diagnóstico prenatal de anomalías genéticas: recomendaciones de consenso SEGO, SEQC(ML), AEDP

por Prieto-García, Belén, Adiego, Begoña, Suela, Javier, Martín, Inmaculada, Santacruz, Belén, García-Planells, Javier, Gil, Mar, González, Concepción, Eva Barrenechea
Publicado 2020

Novel intragenic deletion within the FXN gene in a patient with typical phenotype of Friedreich ataxia: may be more prevalent than we think?

por Aguilera, Cinthia, Esteve-Garcia, Anna, Casasnovas, Carlos, Vélez-Santamaria, Valentina, Rausell, Laura, Gargallo, Pablo, Garcia-Planells, Javier, Alía, Pedro, Llecha, Núria, Padró-Miquel, Ariadna
Publicado 2023

Earlier relapse detection after allogeneic haematopoietic stem cell transplantation by chimerism assays: Digital PCR versus quantitative real-time PCR of insertion/deletion polymor...

por Valero-Garcia, Jennifer, González-Espinosa, María del Carmen, Barrios, Manuel, Carmona-Antoñanzas, Greta, García-Planells, Javier, Ruiz-Lafora, Carlos, Fuentes-Gálvez, Ainhoa, Jiménez-Velasco, Antonio
Publicado 2019

Correction: Earlier relapse detection after allogeneic haematopoietic stem cell transplantation by chimerism assays: Digital PCR versus quantitative real-time PCR of insertion/dele...

por Valero-Garcia, Jennifer, González-Espinosa, María del Carmen, Barrios, Manuel, Carmona-Antoñanzas, Greta, García-Planells, Javier, Ruiz-Lafora, Carlos, Fuentes-Gálvez, Ainhoa, Jiménez-Velasco, Antonio
Publicado 2019

Homozygous Pro1066Arg MYBPC3 Pathogenic Variant in a 26Mb Region of Homozygosity Associated with Severe Hypertrophic Cardiomyopathy in a Patient of an Apparent Non-Consanguineous F...

por Rodríguez-López, Raquel, García-Planells, Javier, Martínez-Matilla, Marina, Pérez-García, Cristian, García Banacloy, Amor, Guzmán Luján, Carola, Zomeño Alcalá, Otilia, Belchi Navarro, Joaquina, Martínez-León, Juan, Salguero-Bodes, Rafael
Publicado 2022