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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 -
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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
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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 -
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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
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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
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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
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المؤلفون: Alberto Fernández-Jaén, Ana Laura Fernández-Perrone, D. Martín Fernández-Mayoralas, A. Alba Menéndez, A. Jiménez de Domingo
المصدر: ABACUS. Repositorio de Producción Científica
Universidad Europea (UEM)
Neurología, Vol 36, Iss 4, Pp 330-332 (2021)مصطلحات موضوعية: Efectos fisiológicos, Sistema endocrino, business.industry, Signos y síntomas, Enfermedad del sistema nervioso, Medicine, Neurology. Diseases of the nervous system, Neurology (clinical), RC346-429, business, Dolor agudo, Discapacidad intelectual
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b4d373e0a7799985dbbcc2acb1d148b
http://hdl.handle.net/11268/11406 -
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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
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المؤلفون: Juan Luis, Párraga, Beatriz, Calleja Pérez, Sara, López-Martín, Jacobo, Albert, Daniel, Martín Fernández-Mayoralas, Ana Laura, Fernández-Perrone, Ana, Jiménez de Domingo, Pilar, Tirado, Sonia, López-Arribas, Rebeca, Suárez-Guinea, Alberto, Fernández-Jaén
المصدر: Actas espanolas de psiquiatria. 47(4)
مصطلحات موضوعية: Diagnostic and Statistical Manual of Mental Disorders, Male, Parents, Habits, Adolescent, Video Games, Attention Deficit Disorder with Hyperactivity, Surveys and Questionnaires, Child Behavior, Humans, Female, Child, Life Style
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::8967e920bd773a24558792fda3144a00
https://pubmed.ncbi.nlm.nih.gov/31461155 -
10Mutations in BRAT1 cause autosomal recessive progressive encephalopathy: Report of a Spanish patient
المؤلفون: Toru Ouchi, Mar Jimenez De La Peña, Jacobo Albert, Eui Young So, Alberto Fernández-Jaén, Sara Álvarez, Anna Duat, Beatriz Calleja-Pérez, Ana Laura Fernández-Perrone, Daniel Martín Fernández-Mayoralas
المصدر: Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madridمصطلحات موضوعية: Male, 0301 basic medicine, Heterozygote, Pediatrics, medicine.medical_specialty, Pathology, Microcephaly, Lethal neonatal rigidity, Genetic counseling, medicine.disease_cause, Compound heterozygosity, Article, 03 medical and health sciences, 0302 clinical medicine, BRAT1, Seizures, medicine, Humans, Child, Exome sequencing, Progressive encephalopathy, Cerebral atrophy, Mutation, business.industry, Whole exome sequencing, Nuclear Proteins, General Medicine, medicine.disease, 030104 developmental biology, Pediatrics, Perinatology and Child Health, Hypertonia, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery
وصف الملف: application/pdf