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1دورية أكاديمية
المؤلفون: Virginia Pérez‐Grijalba, Alberto García‐Oguiza, María López, Judith Armstrong, Sixto García‐Miñaur, Jose María Mesa‐Latorre, Mar O'Callaghan, Mercé Pineda Marfa, Maria Antonia Ramos‐Arroyo, Fernando Santos‐Simarro, Verónica Seidel, Elena Domínguez‐Garrido
المصدر: Molecular Genetics & Genomic Medicine, Vol 7, Iss 11, Pp n/a-n/a (2019)
مصطلحات موضوعية: CREBBP, epigenetics, genotype–phenotype correlation, Rubinstein‐Taybi syndrome, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2324-9269Test
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المؤلفون: Verónica Seidel, Fernando Santos-Simarro, Judith Armstrong, Maria Antonia Ramos‐Arroyo, María López, Mercé Pineda Marfa, Mar O'Callaghan, Virginia Pérez-Grijalba, Jose María Mesa‐Latorre, García-Oguiza A, Elena Domínguez-Garrido, Sixto García-Miñaur
المصدر: Molecular Genetics & Genomic Medicine, Vol 7, Iss 11, Pp n/a-n/a (2019)
Molecular Genetics & Genomic Medicineمصطلحات موضوعية: Adult, Male, 0301 basic medicine, Adolescent, Genotype, lcsh:QH426-470, 030105 genetics & heredity, Biology, DNA sequencing, Frameshift mutation, Young Adult, 03 medical and health sciences, Exon, Genetics, medicine, Humans, Missense mutation, Child, EP300, Molecular Biology, Gene, Genetic Association Studies, Genetics (clinical), Rubinstein-Taybi Syndrome, epigenetics, Rubinstein–Taybi syndrome, Point mutation, Infant, Original Articles, genotype–phenotype correlation, CREBBP, medicine.disease, CREB-Binding Protein, Rubinstein‐Taybi syndrome, lcsh:Genetics, Phenotype, 030104 developmental biology, Child, Preschool, Mutation, Female, Original Article, E1A-Associated p300 Protein
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f219aa443af5c2668e04a0d2896aa9cTest
https://doi.org/10.1002/mgg3.972Test -
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المصدر: Gene. 506:207-210
مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, 1-Deoxynojirimycin, Adolescent, Developmental Disabilities, Disease, Biology, Asymptomatic, Disability Evaluation, Niemann-Pick C1 Protein, Miglustat, Genetics, medicine, Humans, Language Development Disorders, In patient, Enzyme Inhibitors, Child, Adverse effect, Membrane Glycoproteins, Infant, Newborn, Intracellular Signaling Peptides and Proteins, Infant, Niemann-Pick Disease, Type C, General Medicine, medicine.disease, Discontinuation, Glucosyltransferases, Child, Preschool, Mutation, Disease Progression, Niemann-pick type c disease, Female, medicine.symptom, Carrier Proteins, Niemann–Pick disease, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e5c60aa5c4280dacf5e73807caa8c14Test
https://doi.org/10.1016/j.gene.2012.06.054Test -
4
المؤلفون: Elena Martín Hernández, María Socorro Pérez-Poyato, Montserrat Milà, Laia Rodriguez-Revenga, Antonio Martínez Bermejo, Alfonso Verdú Pérez, Jesús Eiris Puñal, María J Martínez González, Isidre Ferrer Abizanda, M. Josep Coll Rosell, Mercé Pineda Marfa, Victoria Cusí Sánchez, M. Mar García González, Laura Gort
المصدر: Journal of Child Neurology. 28:470-478
مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Pathology, Ataxia, Adolescent, Genotype, Intranuclear Inclusion Bodies, Myoclonic Jerk, Disease, Aminopeptidases, Statistics, Nonparametric, Epilepsy, Neuronal Ceroid-Lipofuscinoses, medicine, Humans, Genetic Predisposition to Disease, Cognitive decline, Child, Dipeptidyl-Peptidases and Tripeptidyl-Peptidases, Retrospective Studies, Tripeptidyl-Peptidase 1, business.industry, Jansky–Bielschowsky disease, medicine.disease, Natural history, Spain, Child, Preschool, Mutation, Pediatrics, Perinatology and Child Health, Disease Progression, Regression Analysis, Female, Neurology (clinical), Serine Proteases, medicine.symptom, business, Psychomotor Performance, Rare disease
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96ce9b2986b52171a4ce5a91671c8e76Test
https://doi.org/10.1177/0883073812448459Test -
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المؤلفون: Mercé Pineda Marfa, Judith Armstrong Morón, M Itziar Alonso Colmenero, Ana Roche Martínez, Francesc X. Sanmartí Vilaplana, Andreia Gomes Pereira
المصدر: Epileptic Disorders. 13:389-393
مصطلحات موضوعية: medicine.medical_specialty, Neurology, Adolescent, Methyl-CpG-Binding Protein 2, Nerve Tissue Proteins, Rett syndrome, Protein Serine-Threonine Kinases, Audiology, Electroencephalography, Epilepsy, Reflex, Eating, Young Adult, Epilepsy, Seizures, Rett Syndrome, medicine, Humans, Risperidone, medicine.diagnostic_test, Forkhead Transcription Factors, General Medicine, Carbamazepine, Proprioception, medicine.disease, Epileptic spasms, Anesthesia, Reflex, Anticonvulsants, Female, Neurology (clinical), Psychology, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1329d620ca7aec88d6cdb01bd9130b95Test
https://doi.org/10.1684/epd.2011.0475Test -
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المؤلفون: L. Rodriguez-Revenga, María-Socorro Pérez-Poyato, M. Mar García González, Mercé Pineda Marfa, Montserrat Milá Recansens, Ramón Velázquez Fragua, Antonio Martínez-Bermejo, Rafael Camino León, Rosario Domingo Jiménez, Victoria Cusí Sánchez, Raquel Montero Sánchez, Isidre Ferrer Abizanda
المصدر: Journal of Inherited Metabolic Disease. 34:1083-1093
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Pathology, Batten disease, Adolescent, DNA Mutational Analysis, Young Adult, Cognition, Neuronal Ceroid-Lipofuscinoses, Internal medicine, Genotype, Genetics, medicine, Humans, Missense mutation, Cognitive decline, Child, Genetics (clinical), Psychomotor learning, business.industry, Mental Disorders, medicine.disease, Genetics, Population, Phenotype, Molecular Diagnostic Techniques, CLN3, Spain, Disease Progression, Female, Neuronal ceroid lipofuscinosis, Age of onset, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6ac52028d4580dc24da4c3126680207Test
https://doi.org/10.1007/s10545-011-9323-7Test