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10741por Gonçalves, Sara, Patat, Julie, Guida, Maria Clara, Lachaussée, Noelle, Arrondel, Christelle, Helmstädter, Martin, Boyer, Olivia, Gribouval, Olivier, Gubler, Marie-Claire, Mollet, Geraldine, Rio, Marlène, Charbit, Marina, Bole-Feysot, Christine, Nitschke, Patrick, Huber, Tobias B., Wheeler, Patricia G., Haynes, Devon, Juusola, Jane, Billette de Villemeur, Thierry, Nava, Caroline, Afenjar, Alexandra, Keren, Boris, Bodmer, Rolf, Antignac, Corinne, Simons, Matias“…Here, we identified three families with mutations in ADD3, encoding for adducin-γ, with intellectual disability, microcephaly, cataracts and skeletal defects. …”
Publicado 2018
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10742por Teng, S, Thomson, P A, McCarthy, S, Kramer, M, Muller, S, Lihm, J, Morris, S, Soares, D C, Hennah, W, Harris, S, Camargo, L M, Malkov, V, McIntosh, A M, Millar, J K, Blackwood, D H, Evans, K L, Deary, I J, Porteous, D J, McCombie, W R“…These results identify altered regulation of schizophrenia candidate genes by DISC1 and its core Interactome as an alternate pathway for schizophrenia risk, consistent with the emerging effects of rare copy number variants associated with intellectual disability.…”
Publicado 2018
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10743por Ung, D C, Iacono, G, Méziane, H, Blanchard, E, Papon, M-A, Selten, M, van Rhijn, J-R, Montjean, R, Rucci, J, Martin, S, Fleet, A, Birling, M-C, Marouillat, S, Roepman, R, Selloum, M, Lux, A, Thépault, R-A, Hamel, P, Mittal, K, Vincent, J B, Dorseuil, O, Stunnenberg, H G, Billuart, P, Nadif Kasri, N, Hérault, Y, Laumonnier, F“…Structural organization as well as signalling pathways from receptor stimulation to gene expression regulation are mediated by synaptic activity and misregulated in neurodevelopmental disorders such as autism spectrum disorder (ASD) and intellectual disability (ID). Deleterious mutations in the PTCHD1 (Patched domain containing 1) gene have been described in male patients with X-linked ID and/or ASD. …”
Publicado 2018
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10744por Dubos, Aline, Meziane, Hamid, Iacono, Giovanni, Curie, Aurore, Riet, Fabrice, Martin, Christelle, Loaëc, Nadège, Birling, Marie-Christine, Selloum, Mohammed, Normand, Elisabeth, Pavlovic, Guillaume, Sorg, Tania, Stunnenberg, Henk G, Chelly, Jamel, Humeau, Yann, Friocourt, Gaëlle, Hérault, Yann“…ARX mutations have been associated with a wide spectrum of neurodevelopmental disorders in humans, among which the most frequent, a 24 bp duplication in the polyalanine tract 2 (c.428_451dup24), gives rise to intellectual disability, fine motor defects with or without epilepsy. …”
Publicado 2018
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10745por van Dipten, Carola, van Berkel, Saskia, de Grauw, Wim J. C., Scherpbier-de Haan, Nynke D., Brongers, Bouke, van Spaendonck, Karel, Wetzels, Jack F. M., Assendelft, Willem J. J., Dees, Marianne K.“…Striving to inform well enough without creating anxiety and to explain suitably for the intellectual ability of the patient caused tension in the patient-physician interaction. …”
Publicado 2018
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10746por Wolfe, Kate, McQuillin, Andrew, Alesi, Viola, Boudry Labis, Elise, Cutajar, Peter, Dallapiccola, Bruno, Dentici, Maria Lisa, Dieux‐Coeslier, Anne, Duban‐Bedu, Benedicte, Duelund Hjortshøj, Tina, Goel, Himanshu, Loddo, Sara, Morrogh, Deborah, Mosca‐Boidron, Anne‐Laure, Novelli, Antonio, Olivier‐Faivre, Laurence, Parker, Jennifer, Parker, Michael J., Patch, Christine, Pelling, Anna L., Smol, Thomas, Tümer, Zeynep, Vanakker, Olivier, van Haeringen, Arie, Vanlerberghe, Clémence, Strydom, Andre, Skuse, David, Bass, Nick“…We present a new case series of 2q13 CNV carriers (21 deletion, 4 duplication) and the largest ever combined analysis with data from published studies, making a total of 54 deletion and 23 duplication carriers. DD/intellectual disabilities was identified in the majority of carriers (79% deletion, 70% duplication), although in the new cases 52% had an IQ in the borderline or normal range. …”
Publicado 2018
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10747por Oyenusi, Elizabeth Eberechi, Ajayi, Elizabeth Onazahi, Akeredolu, Festus Dele, Oduwole, Abiola Olufunmilayo“…Untreated hypothyroidism in childhood has permanent adverse effects on physical, intellectual, and neurological development. However, few studies have reported the pattern of pediatric thyroid disorders in Nigeria. …”
Publicado 2017
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10748por Rasmussen, Mette, Klinge, Mads, Krogh, Jesper, Nordentoft, Merete, Tønnesen, Hanne“…Diagnoses of organic mental disorders (F0 chapter) or intellectual disabilities (F7 chapter) were not included. …”
Publicado 2018
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10749por Young, Susan, González, Rafael A., Fridman, Moshe, Hodgkins, Paul, Kim, Keira, Gudjonsson, Gisli H.“…The all male sample included 390 adult prison inmates with capacity to consent and no history of moderate or severe intellectual disability. Head injury was measured with a series of self-reported questions, addressing history of hits to the head: frequency, severity, loss of consciousness (LOC), and sequelae. …”
Publicado 2018
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10750“…The traditions of research in this topic area have formed reactively in response to frequent and often unpredictable policy changes, rather than proactively as a result of intrinsic academic or intellectual activity. This may explain the absence of seminal literature within the subject field. …”
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10751por Laporta-Hoyos, Olga, Fiori, Simona, Pannek, Kerstin, Ballester-Plané, Júlia, Leiva, David, Reid, Lee B., Pagnozzi, Alex M., Vázquez, Élida, Delgado, Ignacio, Macaya, Alfons, Pueyo, Roser, Boyd, Roslyn N.“…Communication functioning was associated with putamen involvement (B = 0.747, p < .028). Intellectual functioning was associated with global sqMRI score and posterior thalamus involvement (B = −0.018, p < .001; B = −0.192, p < .001). …”
Publicado 2018
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10752por Young, Susan, González, Rafael A., Fridman, Moshe, Hodgkins, Paul, Kim, Keira, Gudjonsson, Gisli H.“…The all male sample included 390 adult prison inmates with capacity to consent and no history of moderate or severe intellectual disability. Participants were interviewed using the Diagnostic Interview for ADHD in Adults 2.0. …”
Publicado 2018
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10753“…METHODS: A survey and assessment of market trends, research efforts and standards related to smart medical beds was performed, covering a wide range of public records of intellectual property, models and related healthcare solutions, as well as relevant research efforts in the field between 2000 and 2016. …”
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10754por Ponson, Laura, Gomot, Marie, Blanc, Romuald, Barthelemy, Catherine, Roux, Sylvie, Munnich, Arnold, Romana, Serge, Aguillon-Hernandez, Nadia, Malan, Valérie, Bonnet-Brilhault, Frédérique“…Thirty-nine percent met ASD clinical criteria, exceeding cut-off scores on both ADI-R (Autism Diagnosis Interview based on the period spanning 4–5 years of age) and ADOS-2 (Autism Diagnosis Observation Schedule for the current period). All patients had intellectual disability and language disability. Deletion size was significantly correlated with expressive and receptive language disability but not with ASD standardized assessment scores. …”
Publicado 2018
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10755“…Close examination revealed a 0.5 Mb region of the Xi that transitioned from H3K9me3 heterochromatin to euchromatin within the 3′ end of the IL1RAPL1 gene that is part of a common chromosome fragile site that is frequently deleted or rearranged in patients afflicted with intellectual disability and other neurological ailments. …”
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10756“…Down syndrome (DS), the main genetic cause of intellectual disability, is associated with an imbalance of excitatory/inhibitory neurotransmitter systems. …”
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10757por Johnson, Matthew B., Sun, Xingshen, Kodani, Andrew, Borges-Monroy, Rebeca, Girskis, Kelly M., Ryu, Steven C., Wang, Peter P., Patel, Komal, Gonzalez, Dilenny M., Woo, Yu Mi, Yan, Ziying, Liang, Bo, Smith, Richard S., Chatterjee, Manavi, Coman, Daniel, Papademetris, Xenophon, Staib, Lawrence H., Hyder, Fahmeed, Mandeville, Joseph B., Grant, P. Ellen, Im, Kiho, Kwak, Hojoong, Engelhardt, John F., Walsh, Christopher A., Bae, Byoung-Il“…While genes essential for cortical developmental expansion have been identified from the genetics of human primary microcephaly (“small head”, associated with reduced brain size and intellectual disability)(1), studies of these genes in mice, whose smooth cortex is one thousand times smaller than that of humans, have provided limited insight. …”
Publicado 2018
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10758“…Adult playfulness is a personality trait that enables people to frame or reframe everyday situations in such a way that they experience them as entertaining, intellectually stimulating, or personally interesting. …”
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10759por Morini, Raffaella, Ferrara, Silvia, Perrucci, Fabio, Zambetti, Stefania, Pelucchi, Silvia, Marcello, Elena, Gardoni, Fabrizio, Antonucci, Flavia, Matteoli, Michela, Menna, Elisabetta“…Hence spine morphology and synaptic strength are tightly linked and indeed abnormalities in spine number and morphology have been described in a number of neurological disorders such as autism spectrum disorders (ASDs), schizophrenia and intellectual disabilities. We have recently demonstrated that the actin regulating protein, Epidermal growth factor receptor pathway substrate 8 (Eps8), is essential for spine growth and long term potentiation. …”
Publicado 2018
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10760por du Plessis, Edwin D., du Plessis, Henri J., Nel, Henco C., Oosthuizen, Inge, van der Merwe, Suzahn, Zwiegers, Stefan, Joubert, Gina“…Observati found not accountable were significantly more likely to be diagnosed with schizophrenia, intellectual disability and substance-induced psychotic disorder, and committed mostly assault, murder and vandalism. …”
Publicado 2017
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