Hasil Pencarian - Ana Belén de la Hoz

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  1. 1
    3p14 De Novo Interstitial Microdeletion in a Patient with Intellectual Disability and Autistic Features with Language Impairment: A Comparison with Similar Cases

    3p14 De Novo Interstitial Microdeletion in a Patient with Intellectual Disability and Autistic Features with Language Impairment: A Comparison with Similar Cases oleh Ana Belén de la Hoz, Hiart Maortua, Ainhoa García-Rives, María Jesús Martínez-González, Maitane Ezquerra, María-Isabel Tejada

    Diterbitkan 2015-01-01
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  2. 2
    Effect of AGG Interruptions on FMR1 Maternal Transmissions

    Effect of AGG Interruptions on FMR1 Maternal Transmissions oleh 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

    Diterbitkan 2020-07-01
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  3. 3
    Genotypic variability in patients with clinical diagnosis of Bartter syndrome type 3

    Genotypic variability in patients with clinical diagnosis of Bartter syndrome type 3 oleh Alejandro García-Castaño, Sara Gómez-Conde, Leire Gondra, María Herrero, Mireia Aguirre, Ana-Belén de la Hoz, Luis Castaño, Renaltube group, Leire Madariaga

    Diterbitkan 2023-08-01
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  4. 4
    Molecular and Clinical Characterization of a Novel Nonsense Variant in Exon 1 of the UPF3B Gene Found in a Large Spanish Basque Family (MRX82)

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

    Diterbitkan 2019-10-01
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  5. 5
    Hereditary Spastic Paraplegia and Intellectual Disability: Clinicogenetic Lessons From a Family Suggesting a Dual Genetics Diagnosis

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

    Diterbitkan 2020-02-01
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  6. 6
    Genetic profile of a large Spanish cohort with hypercalcemia

    Genetic profile of a large Spanish cohort with hypercalcemia oleh Alejandro García-Castaño, Leire Madariaga, Sara Gómez-Conde, Pedro González, Gema Grau, Itxaso Rica, Gustavo Pérez de Nanclares, Ana Belén De la Hoz, Aníbal Aguayo, Rosa Martínez, Inés Urrutia, Sonia Gaztambide, Calcium Phosphorus Metabolism Molecular Biology Group, Luis Castaño

    Diterbitkan 2024-03-01
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  7. 7
    Novel variant in the CNNM2 gene associated with dominant hypomagnesemia.

    Novel variant in the CNNM2 gene associated with dominant hypomagnesemia. oleh 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

    Diterbitkan 2020-01-01
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  8. 8
    Novel variant in the CNNM2 gene associated with dominant hypomagnesemia

    Novel variant in the CNNM2 gene associated with dominant hypomagnesemia oleh 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

    Diterbitkan 2020-01-01
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  9. 9
    Five patients with disorders of calcium metabolism presented with GCM2 gene variants

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

    Diterbitkan 2021-02-01
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  10. 10
    Immunogenicity of a third dose with mRNA-vaccines in the ChAdOx1-S/BNT162b2 vaccination regimen against SARS-CoV-2 variants

    Immunogenicity of a third dose with mRNA-vaccines in the ChAdOx1-S/BNT162b2 vaccination regimen against SARS-CoV-2 variants oleh Javier García-Pérez, Alberto M. Borobia, Mayte Pérez-Olmeda, Antonio Portolés, Luis Castaño, Magdalena Campins-Artí, María Jesús Bertrán, Mercedes Bermejo, José Ramón Arribas, Andrea López, Ana Ascaso-del-Rio, Eunate Arana-Arri, Inmaculada Fuentes Camps, Anna Vilella, Almudena Cascajero, María Teresa García-Morales, María Castillo de la Osa, Carla Pérez Ingidua, David Lora, Paloma Jiménez-Santana, Silvia Pino-Rosa, Agustín Gómez de la Cámara, Erick De La Torre-Tarazona, Esther Calonge, Raquel Cruces, Cristóbal Belda-Iniesta, José Alcamí, Jesús Frías, Antonio J. Carcas, Francisco Díez-Fuertes, Lucía Díaz García, Elena Ramírez García, Enrique Seco Meseguer, Stefan Mark Stewart Balbàs, Alicia Marín Candón, Irene García García, Mikel Urroz Elizalde, Paula de la Rosa, Marta Sanz García, Cristina López Crespo, Vega Mauleón Martínez, Raquel de Madariaga Castell, Laura Vitón Vara, Rocío Prieto-Pérez, Emilio Vargas-Castrillón, Leonor Laredo, Ouhao Zhu-Huang, Teresa Iglesias, Natale Imaz-Ayo, Susana Meijide, Aitor García de Vicuña, Ana Santorcuato, Iraide Exposito, Sara de Benito, Alazne Bustinza, Mikel Gallego, Dolores García-Vázquez, Ana Belén de la Hoz, Gustavo Pérez-Nanclares, Josu Aurrekoetxea, Ines Urrutia, Rosa Martínez-Salazar, Janire Orcajo, Begoña Calvo, June Corcuera, Olaia Velasco, Anibal Aguayo, Xavier Martínez-Gómez, Susana Otero-Romero, Lluis Armadans, Blanca Borras-Bermejo, Oleguer Parés, Sonia Uriona, José Ángel Rodrigo Pendás, Cesar Llorente, José Santos, Laia Pinós, Lina Camacho, Judith Riera, Carla Sans, Antonia Agustí, Carmen Altadill, Carla Aguilar Blancafort, Gisela Gili Serrat, Aitana Plaza, Anna Feliu Prius, Maria Margarita Torrens, Esther Palacio, Gloria Torres, Julia Calonge, Elena Ballarin Alins, Eulàlia Pérez-Esquirol, Lourdes Vendrell Bosch, Marta Aldea, Eugènia Mellado, Ma Ángeles Marcos, Marta Tortajada, Lourdes E. Barón-Mira, Laura Granés, Sulayman Lazaar, Sara Herranz, Montserrat Malet, Sebastiana Quesada, Anna Llupià, Victoria Olivé, Antoni Trilla, Begoña Gómez, Elisenda González, Sheila Romero, Francisco Javier Gámez, Cristina Casals, Laura Burunat, Juan José Castelló, Patricia Fernández, Josep Lluís Bedini, Jordi Vila, Juan Carlos Hurtado, Isabel Jado, Giovanni Fedele, Concepción Perea, Mónica González, Isabel Grajera, María Ángeles Murillo, Pilar Balfagón, Irene Díaz-Marín, Gema González-Pardo

    Diterbitkan 2024-09-01
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