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10141por De Groot, Cornelis Jan, Poitou Bernert, Christine, Coupaye, Muriel, Clement, Karine, Paschou, Stavroula A., Charmandari, Evangelia, Kanaka-Gantenbein, Christina, Wabitsch, Martin, Buddingh, Emilie P., Nieuwenhuijsen, Barbara, Marina, Ljiljana, Johannsson, Gudmundur, Van Den Akker, E. L. T.“…Key principals of the management of patients with genetic obesity during COVID-19 pandemic for patients that have contracted COVID-19 are to be aware of: possible adrenal insufficiency (e.g., POMC deficiency, PWS); a more severe course in patients with concomitant immunodeficiency (e.g., LEP and LEPR deficiency), although defective leptin signalling could also be protective against the pro-inflammatory phenotype of COVID-19; disease severity being masked by insufficient awareness of symptoms in syndromic obesity patients with intellectual deficit (in particular PWS); to adjust medication dose to increased body size, preferably use dosing in m2; the high risk of malnutrition in patients with Sars-Cov2 infection, even in case of obesity. …”
Publicado 2021
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10142por O'Connor, Laserina, Coffey, Alice, Lambert, Veronica, Casey, Mary, McNamara, Martin, Teeling, Sean Paul, O'Doherty, Jane, Barnard, Marlize, Corcoran, Yvonne, Davies, Carmel, Doody, Owen, Frawley, Timothy, O'Brien, Denise, Redmond, Catherine, Smith, Rita, Somanadhan, Suja, Noonan, Maria, Bradshaw, Carmel, Tuohy, Dympna, Gallen, Anne“…Background: In 2018, the Office of the Nursing and Midwifery Services Director (ONMSD) completed phase one of work which culminated in the development and launch of seven research reports with defined suites of quality care process metrics (QCP-Ms) and respective indicators for the practice areas – acute care, midwifery, children’s, public health nursing, older persons, mental health and intellectual disability nursing in Ireland. This paper presents a rapid realist review protocol that will systematically review the literature that examines QCP-Ms in practice; what worked, or did not work for whom, in what contexts, to what extent, how and why? …”
Publicado 2021
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10143por Fusar-Poli, Laura, Rodolico, Alessandro, Sturiale, Serena, Carotenuto, Bianca, Natale, Antimo, Arillotta, Davide, Siafis, Spyridon, Signorelli, Maria Salvina, Aguglia, Eugenio“…We finally included 43 case-control studies which compared the 2D:4D ratio of patients with autism spectrum disorder (ASD) (n = 16), schizophrenia (n = 8), gender non-conformity (n = 7), addictions (n = 5), attention deficit-hyperactivity disorder (ADHD) (n = 4), mood disorders (n = 2), and intellectual disability (n = 1) to non-clinical controls. …”
Publicado 2021
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10144por Munir, Rubina, Zia-ur-Rehman, Muhammad, Murtaza, Shahzad, Zaib, Sumera, Javid, Noman, Awan, Sana Javaid, Iftikhar, Kiran, Athar, Muhammad Makshoof, Khan, Imtiaz“…Alzheimer’s disease (AD), a progressive neurodegenerative disorder, characterized by central cognitive dysfunction, memory loss, and intellectual decline poses a major public health problem affecting millions of people around the globe. …”
Publicado 2021
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10145por McTiernan, Nina, Gill, Harinder, Prada, Carlos E., Pachajoa, Harry, Lores, Juliana, Arnesen, Thomas“…The phenotypic spectrum includes developmental delay, intellectual disability, and cardiac abnormalities. Here, we have identified the previously undescribed NAA10 c.303C>A and c.303C>G p.…”
Publicado 2020
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10146“…Prader-Willi syndrome (PWS) is a complex, multi-system, neurodevelopmental disorder characterised by neonatal muscular hypotonia, short stature, high risk of obesity, hypogonadism, intellectual disabilities, distinct behavioural/psychiatric problems and abnormal body composition with increased body fat and a deficit of lean body mass. …”
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10147por Ding, Yifeng, Wang, Ji, Zhou, Yuanfeng, Yu, Lifei, Zhang, Linmei, Zhou, Shuizhen, Wang, Yi“…TSC2 mutation (P = .033), epilepsy (P = .011), seizure before 2 years old (P = .001), course of epilepsy (more than 2 years) (P = .001), high reported seizure frequency (more than once a month) (HRSF) (P = .007), multiple antiepileptic drugs (≥2) (P = .002), intellectual disability (ID) (mild and moderate ID, P < .0001, and severe and profound ID, P < .0001), and TANDs (P < .0001) (ADHD, P = .004; agoraphobia, P = .007; and social anxiety disorder, P < .0001) were closely related to lower QOL scores. …”
Publicado 2020
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10148por Limón, Ilhuicamina Daniel, Angulo-Cruz, Isael, Sánchez-Abdon, Lesli, Patricio-Martínez, Aleidy“…Therefore, increased levels of pharmacologically controlled cGMP may be used as a therapeutic tool for improving learning and memory in patients with HE, hyperammonemia, cerebral oedema, or reduced intellectual capacity.…”
Publicado 2021
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10149“…We argue that Darwin’s lasting and multifaceted interest in the notion of habit, throughout his intellectual life, is both conceptually and methodologically relevant. …”
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10150por Asif, Muhammad, Siddiqui, Hamid Anees, Naqvi, Rubab Zahra, Amin, Imran, Asad, Shaheen, Mukhtar, Zahid, Bashir, Aftab, Mansoor, Shahid“…There was a need to characterize NIBGE-1601 event for intellectual property rights protection. The Presence of NIBGE Cry1Ac and NIBGE Cry2Ab genes was checked in NIBGE-1601 cotton plants through PCR, while there was no amplification using primers specific for Monsanto events (MON531, MON15985, MON1445). …”
Publicado 2021
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10151por Himmelmann, Kate, Horber, Veronka, Sellier, Elodie, De la Cruz, Javier, Papavasiliou, Antigone, Krägeloh-Mann, Ingeborg“…The following associated impairments were documented: intellectual impairment, active epilepsy, visual impairment, and hearing impairment. …”
Publicado 2021
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10152por Towse, Adrian, Chalkidou, Kalipso, Firth, Isobel, Kettler, Hannah, Silverman, Rachel“…The BBAMC therefore sets prices in relation to value, protects intellectual property rights, encourages competition, and ensures all populations get access to vaccines, subject to agreed priority allocation rules.…”
Publicado 2021
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10153por Kristensen, Petter, Hanvold, Therese N., Hasting, Rachel L., Merkus, Suzanne L., Hoff, Rune, Mehlum, Ingrid S.“…Diagnostic groups of mental disorders had high risks of never working, ranging from affective (risk 0.150) and stress-related disorders (risk 0.163) to intellectual disability (risk 0.933). Conclusions: The complex problems characterising individuals with low work participation suggest that preventive measures should take sex into account and be targeted at social, educational and mental issues in early life, and focusing on identified vulnerable groups.…”
Publicado 2020
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10154por Wang, Xuan-Ying, Wang, Bo, Zhu, Xiao-Li, Ma, Zhi-Ling, Liu, Ying, Lei, Chang-Hui, Yang, Qian-Li, Hu, Dan, Zhao, Xue-Li, Liu, Zhi-Rong, Liu, Li-Wen“…Danon disease is an X-linked glycogen storage disease characterized by skeletal myopathy, cardiomyopathy and intellectual impairment. It is caused by a loss-of-function mutation in the lysosome-associated membrane protein-2 (LAMP2) gene. …”
Publicado 2021
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10155por Park, Girim, Choi, Yunseo, Jung, Jin-Kee, Shim, Eun-Jo, Kang, Min-young, Sim, Sung-Chur, Chung, Sang-Min, Lee, Gung Pyo, Park, Younghoon“…Our results obtained using core Fluidigm SNP assay sets provide useful information for germplasm assessment and cultivar identification, which are essential for breeding and intellectual right protection in cucumber.…”
Publicado 2021
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10156por Imran, Nazish, Bodla, Zubair Hassan, Asif, Aftab, Shoukat, Rabia, Azeem, M. Waqar“…One hundred and fifty-nine (25%) children had comorbid diagnosis of intellectual disability on Axis-III. Strengths and difficulties questionnaire scores were in abnormal range for significant proportion (>50 %) of patients. …”
Publicado 2021
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10157por Peters, Tessa M. A., Lammerts van Bueren, Irma, Geurtz, Ben P.B.H., Coene, Karlien L. M., de Leeuw, Nicole, Brunner, Han G., Jónsson, Jón J., Willemsen, Michèl A. A. P., Wevers, Ron A., Verbeek, Marcel M.“…Monoamine oxidase A (MAO‐A) deficiency is a rare inborn error of metabolism with impaired degradation of biogenic amines including 5‐hydroxytryptamine (5‐HT), resulting in borderline intellectual disability and behavioral abnormalities. …”
Publicado 2020
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10158por Prieto, Marta, Folci, Alessandra, Poupon, Gwénola, Schiavi, Sara, Buzzelli, Valeria, Pronot, Marie, François, Urielle, Pousinha, Paula, Lattuada, Norma, Abelanet, Sophie, Castagnola, Sara, Chafai, Magda, Khayachi, Anouar, Gwizdek, Carole, Brau, Frédéric, Deval, Emmanuel, Francolini, Maura, Bardoni, Barbara, Humeau, Yann, Trezza, Viviana, Martin, Stéphane“…Fragile X syndrome (FXS) is the most frequent form of inherited intellectual disability and the best-described monogenic cause of autism. …”
Publicado 2021
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10159“…Down syndrome (DS) is mainly caused by an extra copy of chromosome 21 (trisomy 21), and patients display a variety of developmental symptoms, including characteristic facial features, physical growth delay, intellectual disability, and neurodegeneration (i.e., Alzheimer’s disease; AD). …”
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10160por Koly, Kamrun Nahar, Martin-Herz, Susanne P., Islam, Md. Saimul, Sharmin, Nusrat, Blencowe, Hannah, Naheed, Aliya“…OUTCOMES MEASURES: The review included studies that targeted children and adolescents between 1 and 18 years of age diagnosed with any of four specific NDDs that are commonly reported in South Asia; Autism Spectrum Disorder (ASD), Intellectual Disability (ID), Attention Deficit Hyperactivity Disorder (ADHD) and Cerebral Palsy (CP). …”
Publicado 2021
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