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1مؤتمر
المؤلفون: Comblain, Annick
مصطلحات موضوعية: X-Fragile, Langage, spécificité syndromique, Social & behavioral sciences, psychology :: Theoretical & cognitive psychology, Sciences sociales & comportementales, psychologie :: Psychologie cognitive & théorique
جغرافية الموضوع: international
Relation: Inclusion et déficience intellectuelle - Publication de l'association X-Fragile Europe; Inclusion et déficience intellectuelle : Sur l'autoroute de l'inclusion en passant par la génétique, Liège, Belgique (15 et 16 novembre 2018)
URL الوصول: https://orbi.uliege.be/handle/2268/229431
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2كتاب إلكتروني
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3رسالة جامعية
المؤلفون: Calvo Medina, Rocío
مرشدي الرسالة: Farmacología y Pediatría, De Diego Otero, Yolanda, Pérez Costillas, Lucía
مصطلحات موضوعية: Síndrome X Frágil - Tesis doctorales, Vitamin E, Clinical Trial, Antioxidant therapies, X Fragile Syndrome, Neurodevelopmental disorders
URL الوصول: http://hdl.handle.net/10630/12468
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4دورية أكاديمية
المؤلفون: Mandel, Jean-Louis
المصدر: Annuaire du Collège de FranceOpenAIRE.
مصطلحات موضوعية: génétique humaine, génétique, maladies à expansions instables de répétitions polynucléotidiques, maladies génétiques, empreinte génomique parentale, syndrome X fragile, protéine FMRP, retard mental, syndrome de Coffin-Lowry, kinase RSK2, mécanismes physiopathologiques, maladies neuromusculaires, myopathies congénitales, syndromes à ARN toxiques, ataxies, génétique moléculaire, ataxies récessives, maladies à expansion de polyglutamine
Relation: http://journals.openedition.org/annuaire-cdf/basictei/2392; http://journals.openedition.org/annuaire-cdf/tei/2392
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5مؤتمر
المؤلفون: Comblain, Annick, Elbouz, Mouna
المصدر: Journal of Cognitive Education and Psychology, 2(3), 3-22. (2002).
مصطلحات موضوعية: fragile-X syndrome, pragmatic, language, Syndrome X fragile, Pragmatique, langage, Social & behavioral sciences, psychology :: Theoretical & cognitive psychology, Sciences sociales & comportementales, psychologie :: Psychologie cognitive & théorique
جغرافية الموضوع: international
Relation: Fourth European Conference : Psychological Theory and Research on mental retardation and cognitive developmental disabilities, Catania, Italie (23-25 mai 2002)
URL الوصول: https://orbi.uliege.be/handle/2268/13477
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6دورية أكاديمية
المؤلفون: Ana Quelle-Regaldie, Daniel Sobrido-Cameán, Antón Barreiro-Iglesias, María Jesús Sobrido, Laura Sánchez
المصدر: Cells, Vol 10, Iss 2, p 421 (2021)
مصطلحات موضوعية: zebrafish, hereditary dominant ataxias, spinocerebellar ataxias, expanded repeats, X-fragile, neurodegenerative disorders, Cytology, QH573-671
وصف الملف: electronic resource
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7دورية أكاديمية
المؤلفون: Mª Paz Fernández Lozano, Aníbal Puente Ferreras, Mª José Barahona Gomariz, Aurelio Palafox Bogdanovitch****.
المصدر: Liberabit, Vol 16 Nro. 1, Pp 39-51 (2010)
مصطلحات موضوعية: Palabras Clave: Síndromes, Rett, Cri-du-Chat, Williams, X-Frágil, Genotípo, Fenotipo./ Key Words: Syndromes, X-Fragile, Genotype, Phenotype, Psychology, BF1-990
وصف الملف: electronic resource
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8
المؤلفون: Silva, Michelli Alessandra, 1980
المساهمون: Coudry, Maria Irma Hadler, 1949, Bordin, Sonia Sellin, Steiner, Carlos Eduardo, Sousa, Vera Lucia Trevisan de, Silva, Maria da Conceição Fonseca, Universidade Estadual de Campinas. Instituto de Estudos da Linguagem, Programa de Pós-Graduação em Linguística, UNIVERSIDADE ESTADUAL DE CAMPINAS
المصدر: Biblioteca Digital de Teses e Dissertações da Universidade Estadual de Campinas (UNICAMP)
Universidade Estadual de Campinas (UNICAMP)
instacron:UNICAMPمصطلحات موضوعية: Reading, Leitura, Escrita, Writing, Discursive Neurolinguistics, Speech, Fala, Neurolinguística discursiva, X-Fragile Syndrome, Síndrome do cromossomo X frágil
وصف الملف: application/pdf; 130 p. : il.
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::255a5a4bbc412bd5749400137e755376
https://doi.org/10.47749/t/unicamp.2014.928760 -
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المؤلفون: Ísis Venturi Biembengut, Tatiana de Arruda Campos Brasil de Souza, Patrícia Shigunov, Isabelle Leticia Zaboroski Silva
المصدر: Repositório Institucional da FIOCRUZ (ARCA)
Fundação Oswaldo Cruz (FIOCRUZ)
instacron:FIOCRUZمصطلحات موضوعية: Cytoplasm, Protein family, Factores de Crecimiento Nervioso, Degeneração Neural, WAVE regulatory complex, Neurogenesis, Proteína del Retraso Mental del Síndrome del Cromosoma X Frágil, Protéine du syndrome X fragile, CYFIP, Degeneración Nerviosa, Biology, Fragile X Mental Retardation Protein, Facteurs de croissance nerveuse, Eukaryotic translation, Cytosol, Dégénérescence nerveuse, Genetics, Wave regulatory complex, Humans, Nerve Growth Factors, Molecular Biology, Adaptor Proteins, Signal Transducing, Neurons, Fatores de Crescimento Neural, Neurodegenerative Diseases, General Medicine, Proteínas citoplasmáticas de interação, FMR1, Nerve Degeneration, CYFIP2, Proteína do X Frágil de Retardo Mental, Carrier Proteins, Neural development, Neuroscience, Function (biology)
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10
المؤلفون: Côté, Valérie
المساهمون: Lippé, Sarah
مصطلحات موضوعية: Syndrome X Fragile, Adaptive functioning, Down syndrome, Sclérose tubéreuse de Bourneville, Intellectual disability, SYNGAP1 mutations, suppression neuronale, fonctionnement adaptatif, mutations SYNGAP1, traitement sensoriel auditif, Electrophysiology, électrophysiologie, Tuberous sclerosis complex, Repetition suppression and interventions, trisomie 21, interventions, Auditory sensory processing, déficience intellectuelle, Fragile X syndrome
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=od_______317::100e728f9a939017f81ca401fbf23113
https://hdl.handle.net/1866/25257
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