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11621“…BACKGROUND AND AIM: People with intellectual disabilities (ID) show an increased morbidity. …”
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11622por Pacheco, Jennifer A., Rasmussen, Luke V., Wiley, Ken, Person, Thomas Nate, Cronkite, David J., Sohn, Sunghwan, Murphy, Shawn, Gundelach, Justin H., Gainer, Vivian, Castro, Victor M., Liu, Cong, Mentch, Frank, Lingren, Todd, Sundaresan, Agnes S., Eickelberg, Garrett, Willis, Valerie, Furmanchuk, Al’ona, Patel, Roshan, Carrell, David S., Deng, Yu, Walton, Nephi, Satterfield, Benjamin A., Kullo, Iftikhar J., Dikilitas, Ozan, Smith, Joshua C., Peterson, Josh F., Shang, Ning, Kiryluk, Krzysztof, Ni, Yizhao, Li, Yikuan, Nadkarni, Girish N., Rosenthal, Elisabeth A., Walunas, Theresa L., Williams, Marc S., Karlson, Elizabeth W., Linder, Jodell E., Luo, Yuan, Weng, Chunhua, Wei, WeiQi“…Besides portability of NLP technology and algorithm replicability, factors to ensure success include privacy protection, technical infrastructure setup, intellectual property agreement, and efficient communication. …”
Publicado 2023
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11623por Cho, Eunji, Lee, Sang-Eun, Lee, Unghwi, Goh, Yuna, Jeong, Seonyoung, Choi, Junyoung, Jeong, Won-Ki, Chang, Sunghoe“…nArgBP2, a candidate gene for intellectual disability, is a postsynaptic protein critical for dendritic spine development and morphogenesis, and its knockdown (KD) in developing neurons severely impairs spine-bearing excitatory synapse formation. …”
Publicado 2023
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11624por Toya, Akie, Fukada, Masahide, Aoki, Eiko, Matsuki, Tohru, Ueda, Masashi, Eda, Shima, Hashizume, Yoshio, Iio, Akio, Masaki, Shigeo, Nakayama, Atsuo“…These data suggest that NLGN4 functions in systems involved in intellectual abilities, social abilities, and sleep and wakefulness, impairments of which are commonly seen in autism. …”
Publicado 2023
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11625por Norris, Jordan E., Schmitt, Lauren M., De Stefano, Lisa A., Pedapati, Ernest V., Erickson, Craig A., Sweeney, John A., Ethridge, Lauren E.“…FXS clinical presentation often includes intellectual disability, and autism-like symptoms, including anxiety and sensory hypersensitivities. …”
Publicado 2023
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11626por Forrest, Marc P., Dos Santos, Marc, Piguel, Nicolas H., Wang, Yi-Zhi, Hawkins, Nicole A., Bagchi, Vikram A., Dionisio, Leonardo E., Yoon, Sehyoun, Simkin, Dina, Martin-de-Saavedra, Maria Dolores, Gao, Ruoqi, Horan, Katherine E., George, Alfred L., LeDoux, Mark S., Kearney, Jennifer A., Savas, Jeffrey N., Penzes, Peter“…The 16p11.2 duplication is a copy number variant that confers risk for diverse NPDs including autism spectrum disorder, schizophrenia, intellectual disability and epilepsy. We used a mouse model of the 16p11.2 duplication (16p11.2(dup/+)) to uncover molecular and circuit properties associated with this broad phenotypic spectrum, and examined genes within the locus capable of phenotype reversal. …”
Publicado 2023
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11627“…Imposter syndrome is self-perceived intellectual fraud in areas of success. Sense of belonging and imposter syndrome can influence behavior and well-being and are linked to academic and career outcomes. …”
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11628por Raggio, Víctor, Graña, Martín, Winiarski, Erik, Mansilla, Santiago, Simoes, Camila, Rodríguez, Soledad, Brandes, Mariana, Tapié, Alejandra, Rodríguez, Laura, Cibils, Lucía, Alonso, Martina, Martínez, Jennyfer, Fernández-Calero, Tamara, Domínguez, Fernanda, Mezquida, Melania Rosas, Castro, Laura, Cerisola, Alfredo, Naya, Hugo, Cassina, Adriana, Quijano, Celia, Spangenberg, Lucía“…Several studies have associated homozygous or compound heterozygous mutations in SPATA5 gene to microcephaly, intellectual disability, seizures and hearing loss. This suggests a role of the SPATA5 gene also in neuronal development. …”
Publicado 2023
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11629por Kanemoto, Kousuke, Tadokoro, Yukari, Motooka, Hiromichi, Kawasaki, Jun, Horinouchi, Toru, Tsuji, Tomikimi, Fukuchi, Toshihiko, Tomohiro, Oshima“…Multiple regression analysis of a sample limited to patients with intellectual disability (ID) (n = 44; R (2) = 0.366; F = 4.493; P = 0.002) revealed continued psychotherapy at follow‐up (t = 2.610, P = 0.013) and successful reduction in antiseizure medication (t = 2.868; P = 0.007) as positively related with improved QoL. …”
Publicado 2023
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11630por Thompson, Christopher H., Potet, Franck, Abramova, Tatiana V., DeKeyser, Jean-Marc, Ghabra, Nora F., Vanoye, Carlos G., Millichap, John, George, Alfred L.“…SCN2A is also a high confidence risk gene for autism spectrum disorder (ASD) and nonsyndromic intellectual disability (ID). Previous work to determine the functional consequences of SCN2A variants yielded a paradigm in which predominantly gain-of-function (GoF) variants cause epilepsy whereas loss-of-function (LoF) variants are associated with ASD and ID. …”
Publicado 2023
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11631“…The article aims to understand the role of Web of Science (WOS) as a tool of knowledge management in academia by drawing on the scholarly output volume, the patterns displayed by this volume, and the intellectual structure of cultural heritage research based on WOS-indexed journal articles. …”
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11632por Ghirardini, Elsa, Sagona, Giulia, Marquez-Galera, Angel, Calugi, Francesco, Navarron, Carmen M., Cacciante, Francesco, Chen, Siwei, Di Vetta, Federica, Dadà, Lorenzo, Mazziotti, Raffaele, Lupori, Leonardo, Putignano, Elena, Baldi, Pierre, Lopez-Atalaya, Jose P., Pizzorusso, Tommaso, Baroncelli, Laura“…Mutations in the solute carrier family 6-member 8 (Slc6a8) gene, encoding the protein responsible for cellular creatine (Cr) uptake, cause Creatine Transporter Deficiency (CTD), an X-linked neurometabolic disorder presenting with intellectual disability, autistic-like features, and epilepsy. …”
Publicado 2023
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11633por Khatri, Deepak, Putoux, Audrey, Cologne, Audric, Kaltenbach, Sophie, Besson, Alicia, Bertiaux, Eloïse, Guguin, Justine, Fendler, Adèle, Dupont, Marie A., Benoit-Pilven, Clara, Qebibo, Leila, Ahmed-Elie, Samira, Audebert-Bellanger, Séverine, Blanc, Pierre, Rambaud, Thomas, Castelle, Martin, Cornen, Gaëlle, Grotto, Sarah, Guët, Agnès, Guibaud, Laurent, Michot, Caroline, Odent, Sylvie, Ruaud, Lyse, Sacaze, Elise, Hamel, Virginie, Bordonné, Rémy, Leutenegger, Anne-Louise, Edery, Patrick, Burglen, Lydie, Attié-Bitach, Tania, Mazoyer, Sylvie, Delous, Marion“…These rare developmental disorders, whose physiopathological mechanisms remain unsolved, associate ante- and post-natal growth retardation, microcephaly, skeletal dysplasia, intellectual disability, retinal dystrophy, and immunodeficiency. …”
Publicado 2023
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11634“…Chapters on the legalities and practicalities of open access in academic libraries address the issues associated with copyright, licensing, and intellectual property and include support for courses that require open access distribution of student work. …”
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11635por RÍOS ORTEGA, JAIME“…THE SECOND ONE UNDERLINES THE FUNDAMENTAL ROLE PLAYED BY THE INTELLECTUAL HISTORY OF CONCEPTS AND LIBRARY SCIENCE THEORIES. …”
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11636por Herzog, Linnea E., Wang, Lei, Yu, Eunah, Choi, Soonwook, Farsi, Zohreh, Song, Bryan J., Pan, Jen Q., Sheng, Morgan“…AKAP11 and GRIN2A mutations are also associated with bipolar disorder [2], and epilepsy and developmental delay/intellectual disability [1, 3, 4], respectively. Accessible in both humans and rodents, electroencephalogram (EEG) recordings offer a window into brain activity and display abnormal features in schizophrenia patients. …”
Publicado 2023
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11637por Taruscio, Domenica, Salvatore, Marco, Lumaka, Aimè, Carta, Claudio, Cellai, Laura L., Ferrari, Gianluca, Sciascia, Savino, Groft, Stephen, Alanay, Yasemin, Azam, Maleeha, Baynam, Gareth, Cederroth, Helene, Cutiongco-de la Paz, Eva Maria, Dissanayake, Vajira Harshadeva Weerabaddana, Giugliani, Roberto, Gonzaga-Jauregui, Claudia, Hettiarachchi, Dineshani, Kvlividze, Oleg, Landoure, Guida, Makay, Prince, Melegh, Béla, Ozbek, Ugur, Puri, Ratna Dua, Romero, Vanessa, Scaria, Vinod, Jamuar, Saumya S., Shotelersuk, Vorasuk, Roccatello, Dario, Gahl, William A., Wiafe, Samuel A., Bodamer, Olaf, Posada, Manuel“…Regulatory problems, including securing informed consent, difficulties in sending DNA to foreign laboratories, protection of intellectual property, and conflicts of interest on the part of service providers, remain issues of concern. …”
Publicado 2023
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11638por Chun, Min Young, Heo, Nam Jin, Seo, Sang Won, Jang, Hyemin, Suh, Yeon-Lim, Jang, Ja-Hyun, Kim, Young-Eun, Kim, Eun-Joo, Moon, So Young, Jung, Na-Yeon, Lee, Sun Min, Kim, Hee Jin“…Due to the disruption of bile acid synthesis leading to cholesterol and cholestanol accumulation, CTX manifests as premature cataracts, chronic diarrhea, and intellectual disability in childhood and adolescence. …”
Publicado 2023
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11639por Skrobanski, Hanna, Vyas, Kishan, Bowditch, Sally, Hubig, Lena, Dziadulewicz, Edward, Fish, Louise, Takhar, Pooja, Lo, Siu Hing“…Multivariable models predicted intellectual disability increased hours spent caring by primary caregivers (p = 0.01–0.04), and neuropsychiatric comorbidities decreased family functioning (p = 0.02) and caregiver HRQL (p < 0.01). …”
Publicado 2023
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11640“…Here we describe male triplets, clinically presenting with the phenotype of subtle but distinctive facial features, intellectual disability, increased body weight, neonatal EOEE, and prominently variable abnormal behaviors of autism and sexual arousal. …”
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