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11101por Bae, Young-Soo, Yoon, Sang Ho, Kim, Young Sook, Oh, Sung Pyo, Song, Woo Seok, Cha, Jin Hee, Kim, Myoung-Hwan“…Inborn errors of metabolism (IEMs) are common causes of neurodevelopmental disorders, including microcephaly, hyperactivity, and intellectual disability. However, the synaptic mechanisms of and pharmacological interventions for the neurological complications of most IEMs are unclear. …”
Publicado 2022
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11102por Ramsey, Imogen, Corsini, Nadia, Hutchinson, Amanda, Marker, Julie, Eckert, Marion“…Recognising these challenges, from 2015 to 2017 the Productivity Commission investigated options for improving data availability and use in Australia, considering factors such as privacy, security, and intellectual property. The inquiry report recommended significant reforms for Australian legislation, including the creation of a data sharing and release structure to improve access to data for research and policy development purposes. …”
Publicado 2022
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11103por Kolevzon, Alexander, Levy, Tess, Barkley, Sarah, Bedrosian-Sermone, Sandra, Davis, Matthew, Foss-Feig, Jennifer, Halpern, Danielle, Keller, Katherine, Kostic, Ana, Layton, Christina, Lee, Rebecca, Lerman, Bonnie, Might, Matthew, Sandin, Sven, Siper, Paige M., Sloofman, Laura G., Walker, Hannah, Zweifach, Jessica, Buxbaum, Joseph D.“…Activity-dependent neuroprotective protein (ADNP) syndrome is a rare genetic condition associated with intellectual disability and autism spectrum disorder. …”
Publicado 2022
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11104por Krüger, Johanna, Schubert, Julian, Kegele, Josua, Labalme, Audrey, Mao, Miaomiao, Heighway, Jacqueline, Seebohm, Guiscard, Yan, Pu, Koko, Mahmoud, Aslan-Kara, Kezban, Caglayan, Hande, Steinhoff, Bernhard J., Weber, Yvonne G., Keo-Kosal, Pascale, Berkovic, Samuel F., Hildebrand, Michael S., Petrou, Steven, Krause, Roland, May, Patrick, Lesca, Gaetan, Maljevic, Snezana, Lerche, Holger“…BACKGROUND: De novo missense variants in KCNQ5, encoding the voltage-gated K(+) channel K(V)7.5, have been described to cause developmental and epileptic encephalopathy (DEE) or intellectual disability (ID). We set out to identify disease-related KCNQ5 variants in genetic generalized epilepsy (GGE) and their underlying mechanisms. …”
Publicado 2022
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11105por Ortiz-Álvarez, Juan, Hernández-Rodríguez, Juan Carlos, Durán-Romero, Antonio José, Conejo-Mir Sánchez, Julián, Pereyra-Rodríguez, José Juan, Osorio-Gómez, Giovana Fernanda“…Those patients with significant intellectual disabilities or severe mental health conditions, including a history of psychosis, were excluded. …”
Publicado 2022
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11106por Lavadi, Raj Swaroop, Bozkurt, Ismail, Harikar, Mandara Muralidhar, Umana, Giuseppe Emmanuele, Chaurasia, Bipin“…These concerns were followed by problems with theft of intellectual property/data and authorship disputes. Forty-one percent believed that the support of extra hands on a load-heavy project was the most powerful benefit of social media collaboration. …”
Publicado 2022
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11107“…We cover aspects including intellectual property rights, freedom-to-operate (FTO), safety regulations for distributing genetically-modified organisms (GMOs), as well as export and import regulations. …”
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11108“…However, the Law is a partial policy reform as it overlooks the pivotal aspects necessary to improve institutional quality in Indonesia, such as inter-community relations, intellectual property regime certainty, quality vocational education, and meritocratic political recruitment. …”
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11109por Gao, Yongchao, Sun, Chao, Gao, Ting, Liu, Zhiyong, Yang, Zhao, Deng, Hui, Fan, Peng, Gao, Junhong“…Long-term exposure to volatile organic compounds (VOCs) in children leads to intellectual and cognitive impairment. Taurine is an essential nutritional amino acid for children, which can improve neurological development in children. …”
Publicado 2022
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11110“…The whole protein study has shown that two mutations E427I for Autism and R525C for non-syndromic intellectual disability (NSID) have distinctive behavior across the four used parameters. …”
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11111por Wang, Yueqi, Chiola, Simone, Yang, Guang, Russell, Chad, Armstrong, Celeste J., Wu, Yuanyuan, Spampanato, Jay, Tarboton, Paisley, Ullah, H. M. Arif, Edgar, Nicolas U., Chang, Amelia N., Harmin, David A., Bocchi, Vittoria Dickinson, Vezzoli, Elena, Besusso, Dario, Cui, Jun, Cattaneo, Elena, Kubanek, Jan, Shcheglovitov, Aleksandr“…We also demonstrate that neurons in organoids with a hemizygous deletion of an autism- and intellectual disability-associated gene SHANK3 exhibit intrinsic and excitatory synaptic deficits and impaired expression of several clustered protocadherins. …”
Publicado 2022
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11112por Christensen, Maria B., Levy, Amanda M., Mohammadi, Nazanin A., Niceta, Marcello, Kaiyrzhanov, Rauan, Dentici, Maria Lisa, Al Alam, Chadi, Alesi, Viola, Benoit, Valérie, Bhatia, Kailash P., Bierhals, Tatjana, Boßelmann, Christian M., Buratti, Julien, Callewaert, Bert, Ceulemans, Berten, Charles, Perrine, De Wachter, Matthias, Dehghani, Mohammadreza, D'haenens, Erika, Doco‐Fenzy, Martine, Geßner, Michaela, Gobert, Cyrielle, Guliyeva, Ulviyya, Haack, Tobias B., Hammer, Trine B., Heinrich, Tilman, Hempel, Maja, Herget, Theresia, Hoffmann, Ute, Horvath, Judit, Houlden, Henry, Keren, Boris, Kresge, Christina, Kumps, Candy, Lederer, Damien, Lermine, Alban, Magrinelli, Francesca, Maroofian, Reza, Vahidi Mehrjardi, Mohammad Yahya, Moudi, Mahdiyeh, Müller, Amelie J., Oostra, Anna J., Pletcher, Beth A., Ros‐Pardo, David, Samarasekera, Shanika, Tartaglia, Marco, Van Schil, Kristof, Vogt, Julie, Wassmer, Evangeline, Winkelmann, Juliane, Zaki, Maha S., Zech, Michael, Lerche, Holger, Radio, Francesca Clementina, Gomez‐Puertas, Paulino, Møller, Rikke S., Tümer, Zeynep“…Biallelic variants of the gene encoding for the zinc‐finger protein 142 (ZNF142) have recently been associated with intellectual disability (ID), speech impairment, seizures, and movement disorders in nine individuals from five families. …”
Publicado 2022
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11113por Zhang, Tai, Zhang, Beihua, Tian, Wende, Wei, Yuchen, Wang, Fengyun, Yin, Xiaolan, Wei, Xiuxiu, Liu, Jiali, Tang, Xudong“…The overall publication performance, the most prolific countries or regions, authors, journals and resources-, knowledge- and intellectual-networking, as well as the co-citation analysis of references and keywords, were analyzed through Microsoft Office Excel 2019, CiteSpace, and VOSviewer. …”
Publicado 2022
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11114por Ling, Weihao, Huang, Danping, Yang, Fan, Yang, Zuozhen, Liu, Min, Zhu, Qiujiao, Huang, Jing, Zhou, Rui, Chen, Xuqin“…The patient was found to have a DD and an intellectual disability. A de-novo variant of the GNAO1 gene (NM_138736: exom6: c.709G>A [p. …”
Publicado 2022
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11115“…This study examined whether higher functions, including intellectual activity (IA) and social role (SR), were associated with vaccinations among 26,177 older adults. …”
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11116por Yi, Zhi, Song, Zhenfeng, Xue, Jiao, Yang, Chengqing, Li, Fei, Pan, Hua, Feng, Xuan, Zhang, Ying, Pan, Hong“…RESULTS: Both the proband and his mother exhibited early-onset seizures, intellectual disability, and developmental delay. While the proband attained seizure control with sodium valproate, his mother's seizures were not well controlled. …”
Publicado 2022
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11117por Liu, Xinting, Zhang, Shan, Wan, Lin, Zhang, Xiaoli, Wang, Haiping, Zhang, Hongwei, Zhu, Gang, Liang, Yan, Yan, Huimin, Zhang, Bo, Yang, Guang“…The isoleucine–glutamine (IQ) motif and Sec7 domain-containing protein 2 (IQSEC2) gene, located at Xp11. 2, are associated with nervous system diseases, such as epilepsy, autism, and intellectual disabilities. Gender-related differences in the severity of phenotype severity have been described previously. …”
Publicado 2022
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11118por Fulton, Sasha L., Wenderski, Wendy, Lepack, Ashley E., Eagle, Andrew L., Fanutza, Tomas, Bastle, Ryan M., Ramakrishnan, Aarthi, Hays, Emma C., Neal, Arianna, Bendl, Jaroslav, Farrelly, Lorna A., Al-Kachak, Amni, Lyu, Yang, Cetin, Bulent, Chan, Jennifer C., Tran, Tina N., Neve, Rachael L., Roper, Randall J., Brennand, Kristen J., Roussos, Panos, Schimenti, John C., Friedman, Allyson K., Shen, Li, Blitzer, Robert D., Robison, Alfred J., Crabtree, Gerald R., Maze, Ian“…With an incidence of ~1 in 800 births, Down syndrome (DS) is the most common chromosomal condition linked to intellectual disability worldwide. While the genetic basis of DS has been identified as a triplication of chromosome 21 (HSA21), the genes encoded from HSA21 that directly contribute to cognitive deficits remain incompletely understood. …”
Publicado 2022
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11119por Kwok, Charlotte P. C., Kwok, Jessie O. T., Yan, Rachel W. K., Lee, Kaspar K. W., Richards, Marcus, Chan, Wai C., Chiu, Helen F. K., Lee, Ruby S. Y., Lam, Linda C. W., Lee, Allen T. C.“…However, we did not find baseline dementia associating with higher risk of incident visual impairment, after controlling for baseline visual acuity, cataract, glaucoma, diabetes, hypertension, hypercholesterolemia, heart diseases, stroke, Parkinson’s disease, depression, hearing and physical impairments, physical, intellectual and social activities, diet, smoking, age, sex, educational level, and socioeconomic status. …”
Publicado 2022
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11120“…A best-estimate (BE) diagnosis of language disorder (LD), intellectual disability (ID), or autism spectrum disorder (ASD) was established, with ASD being most common. …”
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