3p14 De Novo Interstitial Microdeletion in a Patient with Intellectual Disability and Autistic Features with Language Impairment: A Comparison with Similar Cases

por de la Hoz, Ana Belén, Maortua, Hiart, García-Rives, Ainhoa, Martínez-González, María Jesús, Ezquerra, Maitane, Tejada, María-Isabel
Publicado 2015

Effect of AGG Interruptions on FMR1 Maternal Transmissions

por Villate, Olatz, Ibarluzea, Nekane, Maortua, Hiart, de la Hoz, Ana Belén, Rodriguez-Revenga, Laia, Izquierdo-Álvarez, Silvia, Tejada, María Isabel
Publicado 2020

Genotypic variability in patients with clinical diagnosis of Bartter syndrome type 3

por García-Castaño, Alejandro, Gómez-Conde, Sara, Gondra, Leire, Herrero, María, Aguirre, Mireia, de la Hoz, Ana-Belén, Castaño, Luis, Madariaga, Leire
Publicado 2023

Molecular and Clinical Characterization of a Novel Nonsense Variant in Exon 1 of the UPF3B Gene Found in a Large Spanish Basque Family (MRX82)

por Tejada, María Isabel, Villate, Olatz, Ibarluzea, Nekane, de la Hoz, Ana Belén, Martínez-Bouzas, Cristina, Beristain, Elena, Martínez, Francisco, Friez, Michael J., Sobrino, Beatriz, Barros, Francisco
Publicado 2019

Targeted Next-Generation Sequencing in Patients with Suggestive X-Linked Intellectual Disability

por Ibarluzea, Nekane, de la Hoz, Ana Belén, Villate, Olatz, Llano, Isabel, Ocio, Intzane, Martí, Itxaso, Guitart, Miriam, Gabau, Elisabeth, Andrade, Fernando, Gener, Blanca, Tejada, María-Isabel
Publicado 2020

Hereditary Spastic Paraplegia and Intellectual Disability: Clinicogenetic Lessons From a Family Suggesting a Dual Genetics Diagnosis

por Aguilera-Albesa, Sergio, de la Hoz, Ana Belén, Ibarluzea, Nekane, Ordóñez-Castillo, Andrés R., Busto-Crespo, Olivia, Villate, Olatz, Ibiricu-Yanguas, María Asunción, Yoldi-Petri, María E., García de Gurtubay, Iñaki, Perez de Nanclares, Guiomar, Pereda, Arrate, Tejada, María Isabel
Publicado 2020

Novel variant in the CNNM2 gene associated with dominant hypomagnesemia

por García-Castaño, Alejandro, Madariaga, Leire, Antón-Gamero, Montserrat, Mejia, Natalia, Ponce, Jenny, Gómez-Conde, Sara, Pérez de Nanclares, Gustavo, De la Hoz, Ana Belén, Martínez, Rosa, Saso, Laura, Martínez de LaPiscina, Idoia, Urrutia, Inés, Velasco, Olaia, Aguayo, Aníbal, Castaño, Luis, Gaztambide, Sonia
Publicado 2020

Five patients with disorders of calcium metabolism presented with GCM2 gene variants

por García-Castaño, Alejandro, Madariaga, Leire, Gómez-Conde, Sara, Cordo, Carmen Lourdes Rey, López-Iglesias, María, Garcia-Fernández, Yolanda, Martín, Alicia, González, Pedro, Goicolea, Ignacio, de Nanclares, Gustavo Pérez, De la Hoz, Ana Belén, Aguayo, Aníbal, de LaPiscina, Idoia Martínez, Martínez, Rosa, Saso, Laura, Urrutia, Inés, Velasco, Olaia, Castaño, Luis, Gaztambide, Sonia
Publicado 2021