Validation of clinical exome sequencing in the diagnostic procedure of patients with intellectual disability in clinical practice

por Ballesta-Martínez, María Juliana, Pérez-Fernández, Virginia, López-González, Vanesa, Sánchez-Soler, María José, Serrano-Antón, Ana Teresa, Rodríguez-Peña, Lidia Isolina, Barreda-Sánchez, Maria, Armengol-Dulcet, Lluís, Guillén-Navarro, Encarna
Publicado 2023

A Novel Mutation Associated with Neonatal Lethal Cardiomyopathy Leads to an Alternative Transcript Expression in the X-Linked Complex I NDUFB11 Gene

por Amate-García, Guillermo, Ballesta-Martínez, María Juliana, Serrano-Lorenzo, Pablo, Garrido-Moraga, Rocío, González-Quintana, Adrián, Blázquez, Alberto, Rubio, Juan C., García-Consuegra, Inés, Arenas, Joaquín, Ugalde, Cristina, Morán, María, Guillén-Navarro, Encarnación, Martín, Miguel A.
Publicado 2023

Health impact of acute intermittent porphyria in latent and non-recurrent attacks patients

por Buendía-Martínez, Juan, Barreda-Sánchez, María, Rodríguez-Peña, Lidya, Ballesta-Martínez, María Juliana, López-González, Vanesa, Sánchez-Soler, María José, Serrano-Antón, Ana Teresa, Pérez-Tomás, María Elena, Gil-Ferrer, Remedios, Avilés-Plaza, Francisco, Glover-López, Guillermo, Carazo-Díaz, Carmen, Guillén-Navarro, Encarna
Publicado 2021

High penetrance of acute intermittent porphyria in a Spanish founder mutation population and CYP2D6 genotype as a susceptibility factor

por Barreda-Sánchez, María, Buendía-Martínez, Juan, Glover-López, Guillermo, Carazo-Díaz, Carmen, Ballesta-Martínez, María Juliana, López-González, Vanesa, Sánchez-Soler, María José, Rodriguez-Peña, Lidya, Serrano-Antón, Ana Teresa, Gil-Ferrer, Remedios, Martínez-Romero, Maria del Carmen, Carbonell-Meseguer, Pablo, Guillén-Navarro, Encarna
Publicado 2019

EDA, EDAR, EDARADD and WNT10A allelic variants in patients with ectodermal derivative impairment in the Spanish population

por Martínez-Romero, María Carmen, Ballesta-Martínez, María Juliana, López-González, Vanesa, Sánchez-Soler, María José, Serrano-Antón, Ana Teresa, Barreda-Sánchez, María, Rodriguez-Peña, Lidya, Martínez-Menchon, María Teresa, Frías-Iniesta, José, Sánchez-Pedreño, Paloma, Carbonell-Meseguer, Pablo, Glover-López, Guillermo, Guillén-Navarro, Encarna
Publicado 2019

Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience

por Quijada-Fraile, Pilar, Arranz Canales, Elena, Martín-Hernández, Elena, Ballesta-Martínez, María Juliana, Guillén-Navarro, Encarna, Pintos-Morell, Guillem, Moltó-Abad, Marc, Moreno-Martínez, David, García Morillo, Salvador, Blasco-Alonso, Javier, Couce, María Luz, Gil Sánchez, Ricardo, Cortès-Saladelafont, Elisenda, López Rodríguez, Mónica A., García-Silva, María Teresa, Morales Conejo, Montserrat
Publicado 2021

Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature

por Parra, Alejandro, Rabin, Rachel, Pappas, John, Pascual, Patricia, Cazalla, Mario, Arias, Pedro, Gallego-Zazo, Natalia, Santana, Alfredo, Arroyo, Ignacio, Artigas, Mercè, Pachajoa, Harry, Alanay, Yasemin, Akgun-Dogan, Ozlem, Ruaud, Lyse, Couque, Nathalie, Levy, Jonathan, Porras-Hurtado, Gloria Liliana, Santos-Simarro, Fernando, Ballesta-Martinez, Maria Juliana, Guillén-Navarro, Encarna, Muñoz-Hernández, Hugo, Nevado, Julián, Tenorio-Castano, Jair, Lapunzina, Pablo
Publicado 2023