-
1
المؤلفون: Daniel Martín Fernández-Mayoralas, Jacobo Albert, Sara López-Martín, Mar Jiménez de la Peña, Ana Laura Fernández-Perrone, Ana Jiménez de Domingo, Beatriz Calleja-Pérez, Mónica Martínez-García, Sara Álvarez, Alberto Fernández-Jaén
المصدر: Molecular Syndromology. 13:165-170
مصطلحات موضوعية: Genetics, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7234ee0c1becb4a42ba6a3a6813152b6
https://doi.org/10.1159/000519365 -
2
المؤلفون: Daniel Martín Fernández-Mayoralas, Alberto Fernández-Jaén, Beatriz Calleja-Pérez, Marie-Anne Goyette, Sara Álvarez, Ana Laura Fernández-Perrone, Mónica Martínez-García, Jean-François Côté, Ana Jiménez de Domingo, Viviane Tran, Pilar Tirado
المصدر: ABACUS. Repositorio de Producción Científica
Universidad Europea (UEM)مصطلحات موضوعية: 0303 health sciences, Mutación, Deficiencia mental, Motility, RAC1, Cell migration, Cell Biology, Genética humana, Biology, medicine.disease, Biochemistry, Cell biology, 03 medical and health sciences, 0302 clinical medicine, Autism spectrum disorder, 030220 oncology & carcinogenesis, DOCK, Intellectual disability, medicine, Trastorno del espectro autista, Guanine nucleotide exchange factor, Loss function, 030304 developmental biology
-
3
المؤلفون: Luis A Alcaraz, Sara Álvarez, Mar Jimenez De La Peña, Pilar Tirado, James Hagman, Beatriz Calleja-Pérez, Andrea H. Németh, Alberto Fernández-Jaén, Ana Jiménez de Domingo, Jonathan H. Williams
المصدر: Molecular Syndromology. 12:186-193
مصطلحات موضوعية: Ataxia, business.industry, medicine.disease, Bioinformatics, Phenotype, Hypotonia, Neuroimaging, Genotype, Intellectual disability, Genetics, medicine, Autism, medicine.symptom, business, Genetics (clinical), Tractography
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7031d1e1cb2516ecebc5457b77839130
https://doi.org/10.1159/000513583 -
4
المؤلفون: Jacobo, Albert, Alberto J, Sánchez-Carmona, Sara, López-Martín, Beatriz, Calleja-Pérez, Daniel M, Fernández-Mayoralas, Ana, Jiménez de Domingo, Ana L, Fernández-Perrone, Alberto, Fernández-Jaén
المصدر: Medicina. 82
مصطلحات موضوعية: Cognition, Adolescent, Attention Deficit Disorder with Hyperactivity, Humans, Cognitive Dysfunction, Child, Cognition Disorders
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::96566b19d61c9410dcaed4849dfbdfb6
https://pubmed.ncbi.nlm.nih.gov/35171803 -
5
المؤلفون: Sara Álvarez, Junhai Han, Ana Laura Fernández-Perrone, Beatriz Calleja-Pérez, Jacobo Albert, Xian Liu, Zi Chao Zhang, Daniel Martín Fernández-Mayoralas, Alberto Fernández-Jaén, Sara López-Martín, Mᵃ del Mar Peña Vila-Belda, Ana Jiménez de Domingo
مصطلحات موضوعية: Genetics, Mutation, medicine.diagnostic_test, Mutación, Enfermedad del sistema nervioso, Genética humana, medicine.disease, medicine.disease_cause, Phenotype, Neuropsychology and Physiological Psychology, Intellectual disability, Developmental and Educational Psychology, medicine, Missense mutation, Neuropsychological assessment, Psychology, Exome, Gene, X chromosome
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7c69f894fed266e215ad4fd4138c3fc
https://hdl.handle.net/11268/11353 -
6
المؤلفون: Beatriz, Calleja-Pérez, Ana L, Fernández-Perrone, Daniel M, Fernández-Mayoralas, Ana, Jiménez de Domingo, Pilar, Tirado, Sonia, López-Arribas, Rebeca, Suárez-Guinea, Alberto, Fernández-Jaén
المصدر: Medicina (Buenos Aires), Vol 80, Iss Suppl 2, Pp 26-30 (2020)
مصطلحات موضوعية: lcsh:Immunologic diseases. Allergy, Comparative Genomic Hybridization, Models, Genetic, Autism Spectrum Disorder, neurodevelopmental disorders, lcsh:R, autism, lcsh:Medicine, sequencing, lcsh:Infectious and parasitic diseases, intellectual disability, Exome Sequencing, Humans, genetics, lcsh:RC109-216, arrays, lcsh:RC581-607
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::813ef639ba0cc6196d72c6c629a24b27
http://www.medicinabuenosaires.com/PMID/32150709.pdf -
7
المؤلفون: Sara, Lopez-Martín, Jacobo, Albert, Mᵃ Del Mar, Peña Vila-Belda, Xian, Liu, Zi-Chao, Zhang, Junhai, Han, Ana, Jiménez de Domingo, Daniel Martín, Fernández-Mayoralas, Ana Laura, Fernández-Perrone, Beatriz, Calleja-Pérez, Sara, Álvarez, Alberto, Fernández-Jaén
المصدر: Applied neuropsychology. Child. 11(4)
مصطلحات موضوعية: DNA-Binding Proteins, Male, Phenotype, Cerebral Palsy, Intellectual Disability, Mental Retardation, X-Linked, Mutation, Missense, RNA Precursors, Humans, Nuclear Proteins, Maternal Inheritance, Carrier Proteins
-
8
المؤلفون: Viviane, Tran, Marie-Anne, Goyette, Mónica, Martínez-García, Ana, Jiménez de Domingo, Daniel Martín, Fernández-Mayoralas, Ana Laura, Fernández-Perrone, Pilar, Tirado, Beatriz, Calleja-Pérez, Sara, Álvarez, Jean-François, Côté, Alberto, Fernández-Jaén
المصدر: Small GTPases. 13(1)
مصطلحات موضوعية: Male, rac1 GTP-Binding Protein, Cytoskeletal Proteins, Autism Spectrum Disorder, Child, Preschool, Intellectual Disability, Mutation, Humans, Guanine Nucleotide Exchange Factors, Child, Signal Transduction, Transcription Factors, Adaptor Proteins, Signal Transducing
-
9
المؤلفون: Ana Laura Fernández-Perrone, Sara Álvarez, Mar Jimenez De La Peña, Daniel Martín Fernández-Mayoralas, Alberto Fernández-Jaén, Pilar Tirado, Jacobo Albert, Ana Jiménez de Domingo, Sara López-Martín, Beatriz Calleja-Pérez
المصدر: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 35
مصطلحات موضوعية: medicine.medical_specialty, Genética humana, Audiology, Short stature, Borderline intellectual functioning, Neuroimaging, Intellectual Disability, Intellectual disability, medicine, Humans, Abnormalities, Multiple, Global developmental delay, Neurología, Gyrification, Bone Diseases, Developmental, Mutación, business.industry, Tooth Abnormalities, Imagen de difusión tensora, Facies, General Medicine, medicine.disease, Executive functions, Repressor Proteins, Phenotype, Pediatrics, Perinatology and Child Health, Autism, Neurology (clinical), medicine.symptom, business
-
10
المؤلفون: Mar Jimenez De La Peña, Ana Jiménez de Domingo, Sara López-Martín, Pilar Tirado, Jacobo Albert, Mónica Martínez-García, Daniel Martín Fernández-Mayoralas, Alberto Fernández-Jaén, Beatriz Calleja-Pérez, Ana Laura Fernández-Perrone, Sara Álvarez
المصدر: European journal of medical genetics. 63(12)
مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, Psychomotor regression, Encephalopathy, Mutation, Missense, Anoctamins, 030105 genetics & heredity, Genética humana, Desempeño psicomotor, 03 medical and health sciences, Cerebellum, Genetics, medicine, Missense mutation, Humans, Age of Onset, Genetics (clinical), Exome sequencing, Dystonia, Brain Diseases, Mutación, business.industry, Craniocervical dystonia, Myoclonic dystonia, General Medicine, medicine.disease, 030104 developmental biology, Dystonic Disorders, Child, Preschool, Cerebellar atrophy, Female, Desarrollo del niño, Psychomotor Disorders, business