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

by Ana Belén de la Hoz, Hiart Maortua, Ainhoa García-Rives, María Jesús Martínez-González, Maitane Ezquerra, María-Isabel Tejada
Published 2015-01-01

Effect of AGG Interruptions on FMR1 Maternal Transmissions

by Olatz Villate, Olatz Villate, Olatz Villate, Nekane Ibarluzea, Nekane Ibarluzea, Hiart Maortua, Hiart Maortua, Ana Belén de la Hoz, Ana Belén de la Hoz, Laia Rodriguez-Revenga, Laia Rodriguez-Revenga, Laia Rodriguez-Revenga, Silvia Izquierdo-Álvarez, María Isabel Tejada, María Isabel Tejada, María Isabel Tejada
Published 2020-07-01

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

by María Isabel Tejada, María Isabel Tejada, María Isabel Tejada, Olatz Villate, Olatz Villate, Olatz Villate, Nekane Ibarluzea, Nekane Ibarluzea, Ana Belén de la Hoz, Ana Belén de la Hoz, Cristina Martínez-Bouzas, Cristina Martínez-Bouzas, Cristina Martínez-Bouzas, Elena Beristain, Francisco Martínez, Michael J. Friez, Beatriz Sobrino, Beatriz Sobrino, Francisco Barros, Francisco Barros
Published 2019-10-01

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

by Nekane Ibarluzea, Ana Belén de la Hoz, Olatz Villate, Isabel Llano, Intzane Ocio, Itxaso Martí, Miriam Guitart, Elisabeth Gabau, Fernando Andrade, Blanca Gener, María-Isabel Tejada
Published 2020-01-01

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

by Sergio Aguilera-Albesa, Sergio Aguilera-Albesa, Ana Belén de la Hoz, Ana Belén de la Hoz, Nekane Ibarluzea, Nekane Ibarluzea, Andrés R. Ordóñez-Castillo, Olivia Busto-Crespo, Olatz Villate, Olatz Villate, Olatz Villate, María Asunción Ibiricu-Yanguas, María Asunción Ibiricu-Yanguas, María E. Yoldi-Petri, María E. Yoldi-Petri, Iñaki García de Gurtubay, Iñaki García de Gurtubay, Guiomar Perez de Nanclares, Arrate Pereda, María Isabel Tejada, María Isabel Tejada, María Isabel Tejada
Published 2020-02-01

Novel variant in the CNNM2 gene associated with dominant hypomagnesemia.

by Alejandro García-Castaño, Leire Madariaga, Montserrat Antón-Gamero, Natalia Mejia, Jenny Ponce, Sara Gómez-Conde, Gustavo Pérez de Nanclares, Ana Belén De la Hoz, Rosa Martínez, Laura Saso, Idoia Martínez de LaPiscina, Inés Urrutia, Olaia Velasco, Aníbal Aguayo, Luis Castaño, Sonia Gaztambide
Published 2020-01-01

Novel variant in the CNNM2 gene associated with dominant hypomagnesemia

by Alejandro García-Castaño, Leire Madariaga, Montserrat Antón-Gamero, Natalia Mejia, Jenny Ponce, Sara Gómez-Conde, Gustavo Pérez de Nanclares, Ana Belén De la Hoz, Rosa Martínez, Laura Saso, Idoia Martínez de LaPiscina, Inés Urrutia, Olaia Velasco, Aníbal Aguayo, Luis Castaño, Sonia Gaztambide, Obul Reddy Bandapalli
Published 2020-01-01

The direct and indirect costs associated with food hypersensitivity in households: A study in the Netherlands, Poland, and Spain

by Jantine Voordouw, Gerrit Antonides, Margaret Fox, Inma Cerecedo, Javier Zamora, Belen de la Hoz Caballer, Ewa Rokicka, Judith R. Cornelisse-Vermaat, Maciej Jewczak, Pawel Starosta, Marek Kowalski, Monika Jędrzejczak-Czechowicz, Sonia Vázquez-Cortes, Sara Cano-Escudero, Bertine M.J. Flokstra-De Blok, Anthony E.J. Dubois, Miranda Mugford, Lynn J. Frewer
Published 2016-08-01

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

by Alejandro García-Castaño, Leire Madariaga, Sara Gómez-Conde, Carmen Lourdes Rey Cordo, María López-Iglesias, Yolanda Garcia-Fernández, Alicia Martín, Pedro González, Ignacio Goicolea, Gustavo Pérez de Nanclares, Ana Belén De la Hoz, Aníbal Aguayo, Idoia Martínez de LaPiscina, Rosa Martínez, Laura Saso, Inés Urrutia, Olaia Velasco, Luis Castaño, Sonia Gaztambide
Published 2021-02-01

Clinical Practice Guide for Anaphylaxis in Latin America (Galaxia-Latam)

by Victoria Cardona, Alberto Álvarez-Perea, Ignacio Javier Ansotegui-Zubeldia, Alfredo Arias-Cruz, Juan Carlos Ivancevich, Sandra Nora González-Díaz, Patricia Latour-Staffeld, Mario Sánchez-Borges, Carlos Serrano, Dirceu Solé, Luciana Tanno, Nieves Cabañes-Higuero, Tomás Chivato, Belén De la Hoz, Montserrat Fernández-Rivas, Iker Gangoiti, Pedro Guardia-Martínez, Miguel Ángel Herranz-Sanz, Juan Carlos Juliá-Benito, Teófilo Lobera-Labairu, Manuel Praena-Crespo, José Ignacio Prieto-Romo, Carlos Sánchez-Salguero, José Ignacio Sánchez-González, Sonia Uixera-Marzal, Arantza Vega, Pedro Villarroel, Edgardo Jares
Published 2019-08-01