المؤلفون: 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

المصدر: Genes; Volume 12; Issue 4; Pages: 560

مصطلحات موضوعية: autism spectrum disorder, diagnostic yield, exome sequencing, chromosomal microarray, FMR1 testing, copy number variations

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/genes12040560

الاتاحة: https://doi.org/10.3390/genes12040560

المؤلفون: Ana Arteche‐López, Almudena Avila‐Fernandez, Alejandra Damian, Emma Soengas‐Gonda, Rubén Pérez de la Fuente, Patricia Ramos Gómez, Jesús Gallego Merlo, Laura Horcajada Burgos, Carlos Cemillán Fernández, Jose Miguel Lezana Rosales, Juan Francisco González Martínez, Juan Francisco Quesada‐Espinosa, Marta Corton, Maria Paz Guerrero‐Molina

المصدر: Clinical Genetics. 103:236-241

مصطلحات موضوعية: Cerebellar Ataxia, Vestibular Diseases, Bilateral Vestibulopathy, Genetics, Humans, Peripheral Nervous System Diseases, Ataxia, Syndrome, Vestibular Neuronitis, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c4e13b922bf2a0416589dcc09c8c7e6
https://doi.org/10.1111/cge.14249

المؤلفون: Irene Hidalgo Mayoral, Antonio Martínez-Salio, Sara Llamas-Velasco, Irene Gómez-Majón, Ana Arteche-López, Juan Francisco Quesada-Espinosa, Carmen Palma Milla, Jose Miguel Lezana Rosales, Rubén Pérez de la Fuente, Alexandra Juárez Rufián, Olalla Sierra Tomillo, Maria Teresa Sánchez Calvín, Maria José Gómez Rodríguez, Patricia Ramos Gómez, Alberto Villarejo-Galende, Jaime Díaz-Guzmán, Maria Ángeles Ortega-Casarrubios, Patricia Calleja-Castaño, Marta Moreno-García

المصدر: European journal of medical genetics. 65(8)

مصطلحات موضوعية: Cerebrovascular Disorders, Leukoencephalopathies, Protein Stability, Cerebral Small Vessel Diseases, Mutation, Serine Endopeptidases, Genetics, Humans, General Medicine, High-Temperature Requirement A Serine Peptidase 1, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec6a1269ad393a3e1b5f5bfd100822ad
https://pubmed.ncbi.nlm.nih.gov/35705147

المؤلفون: Jaime Cruz-Rojo, Ollalla Sierra-Tomillo, Marta Moreno-García, Rubén Pérez de la Fuente, Laura Rausell-Sánchez, Jesus Gallego-Merlo, Alexandra Juárez-Rufián, José Miguel Lezana-Rosales, Irene Gómez-Manjón, Ana Bustamante-Aragones, María Teresa Sánchez-Calvín, Patricia Ramos-Gómez, A. Camacho-Salas, J. Pozo, Montserrat Morales-Conejo, Lucía Garzón-Lorenzo, Rogelio Simón de las Heras, Maria Isabel Alvarez-Mora, Irene Lázaro-Rodríguez, Juan Francisco Quesada-Espinosa, Irene Hidalgo-Mayoral, María A. Gomez-Cano, Ana Arteche-López, Carmen Palma-Milla, N. Núñez-Enamorado, Maria José Gómez-Rodríguez

المصدر: Neurogenetics. 22(4)

مصطلحات موضوعية: Monocarboxylic Acid Transporters, Biology, X-inactivation, Cellular and Molecular Neuroscience, Exon, X Chromosome Inactivation, Genetics, medicine, Humans, Child, Gene, Genetics (clinical), X chromosome, Allan–Herndon–Dudley syndrome, Symporters, Brain, medicine.disease, Phenotype, Human genetics, Muscular Atrophy, Mutation, Mental Retardation, X-Linked, Muscle Hypotonia, XIST, Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6307c1108292acf0151db700ceebe5e
https://pubmed.ncbi.nlm.nih.gov/34296368