Fetal Genotyping in Maternal Blood by Digital PCR: Towards NIPD of Monogenic Disorders Independently of Parental Origin

por Perlado, Sara, Bustamante-Aragonés, Ana, Donas, Marta, Lorda-Sánchez, Isabel, Plaza, Javier, Rodríguez de Alba, Marta
Publicado 2016

Two interstitial rearrangements (16q deletion and 17p duplication) in a child with MR/MCA

por Sanchez-Jimeno, Carolina, Bustamante-Aragonés, Ana, Infantes-Barbero, Fernando, Rodriguez De Alba, Marta, Ramos, Carmen, Trujillo-Tiebas, María Jose, Lorda-Sánchez, Isabel
Publicado 2014

Overview of Five-Years of Experience Performing Non-Invasive Fetal Sex Assessment in Maternal Blood

por Perlado-Marina, Sara, Bustamante-Aragones, Ana, Horcajada, Laura, Trujillo-Tiebas, Maria Jose, Lorda-Sanchez, Isabel, Ruiz Ramos, Marta, Plaza, Javier, Rodriguez de Alba, Marta
Publicado 2013

Non-Invasive Prenatal Diagnosis in the Management of Preimplantation Genetic Diagnosis Pregnancies

por Bustamante-Aragones †, Ana, Perlado-Marina †, Sara, Trujillo-Tiebas, Maria José, Gallego-Merlo, Jesús, Lorda-Sanchez, Isabel, Rodríguez-Ramirez, Luz, Linares, Concepcion, Hernandez, Corazón, Rodriguez de Alba, Marta
Publicado 2014

Comparison of Diplodia Tip Blight Pathogens in Spanish and North American Pine Ecosystems

por Aragonés, Ana, Manzanos, Tania, Stanosz, Glen, Munck, Isabel A., Raposo, Rosa, Elvira-Recuenco, Margarita, Berbegal, Mónica, Mesanza, Nebai, Smith, Denise R., Simmons, Michael, Wyka, Stephen, Iturritxa, Eugenia
Publicado 2021

Early noninvasive prenatal detection of a fetal CRB1 mutation causing Leber congenital amaurosis

por Bustamante-Aragones, Ana, Vallespin, Elena, Rodriguez de Alba, Marta, Trujillo-Tiebas, Maria Jose, Gonzalez-Gonzalez, Cristina, Diego-Alvarez, Dan, Riveiro-Alvarez, Rosa, Lorda-Sanchez, Isabel, Ayuso, Carmen, Ramos, Carmen
Publicado 2008

Comparison of the diagnostic yield of aCGH and genome-wide sequencing across different neurodevelopmental disorders

por Martinez-Granero, Francisco, Blanco-Kelly, Fiona, Sanchez-Jimeno, Carolina, Avila-Fernandez, Almudena, Arteche, Ana, Bustamante-Aragones, Ana, Rodilla, Cristina, Rodríguez-Pinilla, Elvira, Riveiro-Alvarez, Rosa, Tahsin-Swafiri, Saoud, Trujillo-Tiebas, Maria Jose, Ayuso, Carmen, Rodríguez de Alba, Marta, Lorda-Sanchez, Isabel, Almoguera, Berta
Publicado 2021