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10801“…A whole-person framework that integrates spiritual, intellectual, social and emotional dimensions with the physical changes of the OM cycle is needed to facilitate adolescent OM health literacy. …”
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10802por Asirvatham, Adlyne R., Pavithran, Praveen V., Pankaj, Aswin, Bhavani, Nisha, Menon, Usha, Menon, Arun, Abraham, Nithya, Nair, Vasantha, Kumar, Harish, Thampi, M. V.“…Developmental delay, cardiac anomalies, behavioral abnormalities, and intellectual disabilities were the common presentations in pediatric subjects. …”
Publicado 2019
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10803“…This article aims to present a global view of Sigma-1 receptor research and its intellectual structure. Methods: We used bibliometric indicators of a basic nature as well as techniques for the visualization and analysis of networks of scientific information extracted from Scopus database. …”
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10804por Festa, Beatrice Paola, Berquez, Marine, Gassama, Alkaly, Amrein, Irmgard, Ismail, Hesham M, Samardzija, Marijana, Staiano, Leopoldo, Luciani, Alessandro, Grimm, Christian, Nussbaum, Robert L, De Matteis, Maria Antonietta, Dorchies, Olivier M, Scapozza, Leonardo, Wolfer, David Paul, Devuyst, Olivier“…The dysfunction can be isolated (Dent disease 2) or associated with congenital cataracts, central hypotonia and intellectual disability (Lowe syndrome). The mechanistic understanding of Dent disease 2/Lowe syndrome remains scarce due to limitations of animal models of OCRL deficiency. …”
Publicado 2019
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10805“…The other important and still not fully explored issue is the impact of the preexisting level of intellectual functioning on the training’s outcome. In our study we investigated the impact of WM training on variety of cognitive tasks performance among older adults and the impact of the initial WM capacity (WMC) on the training efficiency. 85 healthy older adults (55–81 years of age; 55 female, 30 males) received 5 weeks of training on adaptive dual N-back task (experimental group) or memory quiz (active controls). …”
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10806por Latinus, Marianne, Mofid, Yassine, Kovarski, Klara, Charpentier, Judith, Batty, Magali, Bonnet-Brilhault, Frédérique“…Discrepancy reported in the literature may arise from that heterogeneity and it may be inadequate to divide children with ASD based only on intellectual quotient or language abilities. This analysis could be a useful tool in providing complementary information for the functional diagnostic of ASD and evaluating verbal communication impairment.…”
Publicado 2019
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10807por Pagnamenta, Alistair T., Kaisaki, Pamela J., Bennett, Fenella, Burkitt‐Wright, Emma, Martin, Hilary C., Ferla, Matteo P., Taylor, John M., Gompertz, Lianne, Lahiri, Nayana, Tatton‐Brown, Katrina, Newbury‐Ecob, Ruth, Henderson, Alex, Joss, Shelagh, Weber, Astrid, Carmichael, Jenny, Turnpenny, Peter D., McKee, Shane, Forzano, Francesca, Ashraf, Tazeen, Bradbury, Kimberley, Shears, Deborah, Kini, Usha, de Burca, Anna, Blair, Edward, Taylor, Jenny C., Stewart, Helen“…Noonan syndrome (NS) is characterised by distinctive facial features, heart defects, variable degrees of intellectual disability and other phenotypic manifestations. …”
Publicado 2019
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10808por Jetha, Arif, Shaw, Robert, Sinden, Adrienne R, Mahood, Quenby, Gignac, Monique AM, McColl, Mary Ann, Martin Ginis, Kathleen A“…Six intervention categories were identified which focused on young adults with mental health or intellectual/learning disabilities (n=3) and addressed employment preparation (n=10) and/or work entry (n=9). …”
Publicado 2019
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10809por Rad, Abolfazl, Altunoglu, Umut, Miller, Rebecca, Maroofian, Reza, James, Kiely N, Çağlayan, Ahmet Okay, Najafi, Maryam, Stanley, Valentina, Boustany, Rose-Mary, Yeşil, Gözde, Sahebzamani, Afsaneh, Ercan-Sencicek, Gülhan, Saeidi, Kolsoum, Wu, Kaman, Bauer, Peter, Bakey, Zeineb, Gleeson, Joseph G, Hauser, Natalie, Gunel, Murat, Kayserili, Hulya, Schmidts, Miriam“…OBJECTIVE: A homozygous truncating variant in MAB21L1 has recently been described in a male affected by intellectual disability, scrotal agenesis, ophthalmological anomalies, cerebellar hypoplasia and facial dysmorphism. …”
Publicado 2019
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10810por Cogram, Patricia, Deacon, Robert M. J., Warner-Schmidt, Jennifer L., von Schimmelmann, Melanie J., Abrahams, Brett S., During, Matthew J.“…Fragile X syndrome (FXS) is the most common inherited form of intellectual disability and autism. FXS is also accompanied by attention problems, hyperactivity, anxiety, aggression, poor sleep, repetitive behaviors, and self-injury. …”
Publicado 2019
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10811“…BACKGROUND: De novo loss of function mutations in STXBP1 are a relatively common cause of epilepsy and intellectual disability (ID). However, little is known about the types and severities of behavioural features associated with this genetic diagnosis. …”
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10812“…Alterations at any of these crucial stages can result in malformations of cortical development (MCDs), a group of genetically heterogeneous neurodevelopmental disorders that present with developmental delay, intellectual disability and epilepsy. Recent progress in genetic technologies, such as next generation sequencing, most often focusing on all protein-coding exons (e.g., whole exome sequencing), allowed the discovery of more than a 100 genes associated with various types of MCDs. …”
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10813por Roberts, Timothy P. L., Matsuzaki, Junko, Blaskey, Lisa, Bloy, Luke, Edgar, J. Christopher, Kim, Mina, Ku, Matthew, Kuschner, Emily S., Embick, David“…To understand the neurophysiological mechanisms underlying auditory processing in ASD-MVNV children, magnetoencephalography (MEG) measured M50 and M100 responses arising from left and right superior temporal gyri during tone stimuli in three cohorts: (1) MVNV children who have ASD (ASD-MVNV), (2) verbal children who have ASD and no intellectual disability (ASD-V), and (3) typically developing (TD) children. …”
Publicado 2019
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10814por Schneeberger, Pauline E., Bierhals, Tatjana, Neu, Axel, Hempel, Maja, Kutsche, Kerstin“…Biallelic LARP7 loss-of-function variants underlie Alazami syndrome characterized by growth retardation and intellectual disability. We report a boy with global developmental delay and seizures carrying the de novo MEPCE nonsense variant c.1552 C > T/p.…”
Publicado 2019
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10815por Peter, Cyril J., Saito, Atsushi, Hasegawa, Yuto, Tanaka, Yuya, Nagpal, Mohika, Perez, Gabriel, Alway, Emily, Espeso-Gil, Sergio, Fayyad, Tariq, Ratner, Chana, Dincer, Aslihan, Gupta, Achla, Devi, Lakshmi, Pappas, John G., Lalonde, François M., Butman, John A., Han, Joan C., Akbarian, Schahram, Kamiya, Atsushi“…C11orf46 knockdown disrupted transcallosal projections and was rescued by wild type C11orf46 but not the C11orf46(R236H) mutant associated with intellectual disability. Multiple genes encoding key regulators of axonal development, including Sema6a, were hyperexpressed in C11orf46-knockdown neurons. …”
Publicado 2019
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10816“…In conclusion, humanism creates a universal ethical structure, which is based on human values such as fidelity, trust, benevolence, intellectual honesty, courage, compassion and truthfulness. …”
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10817por Dines, Jennifer N., Golden-Grant, Katie, LaCroix, Amy, Muir, Alison M., Cintrón, Dianne Laboy, McWalter, Kirsty, Cho, Megan T., Sun, Angela, Merritt, J. Lawrence, Thies, Jenny, Niyazov, Dmitriy, Burton, Barbara, Kim, Katherine, Fleming, Leah, Westman, Rachel, Karachunski, Peter, Dalton, Joline, Basinger, Alice, Ficicioglu, Can, Helbig, Ingo, Pendziwiat, Manuela, Muhle, Hiltrud, Helbig, Katherine L., Caliebe, Almuth, Santer, René, Becker, Kolja, Suchy, Sharon, Douglas, Ganka, Millan, Francisca, Begtrup, Amber, Monaghan, Kristin G., Mefford, Heather C.“…Primary features include metabolic crisis with rhabdomyolysis, encephalopathy, intellectual disability, seizures, and cardiac arrhythmias. …”
Publicado 2018
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10818por Kimonis, Virginia, Surampalli, Abhilasha, Wencel, Marie, Gold, June-Anne, Cowen, Neil M.“…INTRODUCTION: Prader-Willi syndrome (PWS) is a complex genetic condition characterized by hyperphagia, hypotonia, low muscle mass, excess body fat, developmental delays, intellectual disability, behavioral problems, and growth hormone deficiency. …”
Publicado 2019
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10819“…Homozygous inheritance of a different set of ELOVL4 mutations causes a more severe disease with infantile onset characterized by seizures, spasticity, intellectual disability, ichthyosis, and premature death. …”
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10820por Bailey, Cole S., Moldenhauer, Hans J., Park, Su Mi, Keros, Sotirios, Meredith, Andrea L.“…Human KCNMA1 mutations are primarily associated with neurological conditions, including seizures, movement disorders, developmental delay, and intellectual disability. Due to the recent identification of additional patients, the spectrum of symptoms associated with KCNMA1 mutations has expanded but remains primarily defined by brain and muscle dysfunction. …”
Publicado 2019
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