Novel Compound Heterozygous Mutation in <i>TRAPPC9</i> Gene: The Relevance of Whole Genome Sequencing

by Maria Isabel Alvarez-Mora, Jordi Corominas, Christian Gilissen, Aurora Sanchez, Irene Madrigal, Laia Rodriguez-Revenga
Published 2021-04-01

Blood expression profiles of fragile X premutation carriers identify candidate genes involved in neurodegenerative and infertility phenotypes

by Elisabet Mateu-Huertas, Laia Rodriguez-Revenga, Maria Isabel Alvarez-Mora, Irene Madrigal, Rob Willemsen, Montserrat Milà, Eulàlia Martí, Xavier Estivill
Published 2014-05-01

Spontaneous Abortion Associated with Zika Virus Infection and Persistent Viremia

by Anna Goncé, Miguel J. Martínez, Elena Marbán-Castro, Adela Saco, Anna Soler, Maria Isabel Alvarez-Mora, Aida Peiro, Verónica Gonzalo, Gillian Hale, Julu Bhatnagar, Marta López, Sherif Zaki, Jaume Ordi, Azucena Bardají
Published 2018-05-01

Towards a Change in the Diagnostic Algorithm of Autism Spectrum Disorders: Evidence Supporting Whole Exome Sequencing as a First-Tier Test

by Ana Arteche-López, Maria José Gómez Rodríguez, Maria Teresa Sánchez Calvin, Juan Francisco Quesada-Espinosa, Jose Miguel Lezana Rosales, Carmen Palma Milla, Irene Gómez-Manjón, Irene Hidalgo Mayoral, Rubén Pérez de la Fuente, Arancha Díaz de Bustamante, María Teresa Darnaude, Belén Gil-Fournier, Soraya Ramiro León, Patricia Ramos Gómez, Olalla Sierra Tomillo, Alexandra Juárez Rufián, Maria Isabel Arranz Cano, Rebeca Villares Alonso, Pablo Morales-Pérez, Alejandro Segura-Tudela, Ana Camacho, Noemí Nuñez, Rogelio Simón, Marta Moreno-García, Maria Isabel Alvarez-Mora
Published 2021-04-01