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  1. 12101
    “…Variation in the regulation of this activity is thought to give rise to normal variation in human traits, and disruptions are thought to potentially underlie a spectrum of neuropsychiatric conditions (e.g., Autism, Schizophrenia, Downs’ Syndrome, intellectual disability). Hypotheses related to E/I dysfunction have the potential to provide cross-diagnostic explanations and to combine genetic and neurological evidence that exists within and between psychiatric conditions. …”
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    From mechanisms to markers: novel noninvasive EEG proxy markers of the neural excitation and inhibition system in humans
  2. 12102
    “…Further hospitalisation risk was over 10-fold higher for males with psychotic (ARR 13.69; 95%CI 8.95–20.94) and anxiety (ARR 11.44; 95%CI 8.70-15.04) disorders, and for both males and females with cognitive and behavioural delays (ARR 10.79; 95%CI 9.30-12.53 and ARR 14.62; 95%CI 11.20-19.08, respectively), intellectual disability (ARR 10.47; 95%CI 8.04–13.64 and ARR 11.35; 95%CI 7.83–16.45, respectively), and mood disorders (ARR 10.23; 95%CI 8.17–12.80 and ARR 10.12; 95%CI 8.58–11.93, respectively) compared to peers. …”
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    Health service use for young males and females with a mental disorder is higher than their peers in a population-level matched cohort
  3. 12103
    “…The clinical phenotypes were paroxysmal kinesigenic dyskinesia (PKD), benign familial infantile epilepsy (BFIE), epilepsy, infantile spasms, and intellectual disability. The qPCR results showed that PRRT2 gene expression levels were significantly lower in children and parent carriers than the control group. …”
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    Clinical characteristics and genetics of ten Chinese children with PRRT2-associated neurological diseases
  4. 12104
    “…BACKGROUND: Aicardi–Goutières syndrome (AGS) is a severe neurodegenerative disease with clinical features of early-onset encephalopathy and progressive loss of intellectual abilities and motor control. Gene mutations in seven protein-coding genes have been found to be associated with AGS. …”
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    An AGS-associated mutation in ADAR1 catalytic domain results in early-onset and MDA5-dependent encephalopathy with IFN pathway activation in the brain
  5. 12105
    por Loberti, Lorenzo, Bruno, Lucia Pia, Granata, Stefania, Doddato, Gabriella, Resciniti, Sara, Fava, Francesca, Carullo, Michele, Rahikkala, Elisa, Jouret, Guillaume, Menke, Leonie A, Lederer, Damien, Vrielynck, Pascal, Ryba, Lukáš, Brunetti-Pierri, Nicola, Lasa-Aranzasti, Amaia, Cueto-González, Anna Maria, Trujillano, Laura, Valenzuela, Irene, Tizzano, Eduardo F, Spinelli, Alessandro Mauro, Bruno, Irene, Currò, Aurora, Stanzial, Franco, Benedicenti, Francesco, Lopergolo, Diego, Santorelli, Filippo Maria, Aristidou, Constantia, Tanteles, George A, Maystadt, Isabelle, Tkemaladze, Tinatin, Reimand, Tiia, Lokke, Helen, Õunap, Katrin, Haanpää, Maria K, Holubová, Andrea, Zoubková, Veronika, Schwarz, Martin, Žordania, Riina, Muru, Kai, Roht, Laura, Tihveräinen, Annika, Teek, Rita, Thomson, Ulvi, Atallah, Isis, Superti-Furga, Andrea, Buoni, Sabrina, Canitano, Roberto, Scandurra, Valeria, Rossetti, Annalisa, Grosso, Salvatore, Battini, Roberta, Baldassarri, Margherita, Mencarelli, Maria Antonietta, Rizzo, Caterina Lo, Bruttini, Mirella, Mari, Francesca, Ariani, Francesca, Renieri, Alessandra, Pinto, Anna Maria
    Publicado 2022
    “…A combined array- based Comparative Genomic Hybridization and next generation sequencing (NGS) approach investigated both genomic Copy Number Variants and SNVs. Intellectual disability (ID) (82%) ranged from mild to moderate with severe ID identified in two patients. …”
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    Natural history of KBG syndrome in a large European cohort
  6. 12106
    “…METHODS: We analyzed data from the Nationwide Emergency Department Sample for 2016–2018 to estimate the frequencies of ED-treated poisonings among autistic children aged 1–20 years and adjusted odds ratios of ED-treated poisoning associated with ASD in the presence or absence of co-occurring attention-deficit hyperactivity disorder (ADHD) or intellectual disability (ID). The ICD-10-CM external cause-of-injury matrix was utilized to identify poisoning cases. …”
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    Poisoning-related emergency department visits in children with autism spectrum disorder
  7. 12107
    “…We examined whether: (1) premorbid social functioning (PSF) and premorbid academic functioning (PAF) in childhood and adolescence and current intellectual quotient (IQ) define different clusters in 802 first-episode of psychosis (FEP) patients; resulting clusters vary in (2) polygenic risk scores (PRSs) for schizophrenia (SCZ_PRS), bipolar disorder (BD_PRS), major depression (MD_PRS), and IQ (IQ_PRS), and (3) patterns of cannabis use, compared to 1,263 population-based controls. …”
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    First-Episode Psychosis Patients Who Deteriorated in the Premorbid Period Do Not Have Higher Polygenic Risk Scores Than Others: A Cluster Analysis of EU-GEI Data
  8. 12108
    “…If the deletion extends beyond PTCHD1-AS/DDX53 to the next gene, PTCHD1, which is protein-coding, the individuals typically have ASD and intellectual disability (ID). Three male siblings with a 90 kb deletion that affects only PTCHD1-AS (and not including DDX53) have ASD. …”
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    Disruption of DDX53 coding sequence has limited impact on iPSC-derived human NGN2 neurons
  9. 12109
    “…Finally, 23 SSRs and 40 SNPs were selected as the core sets of markers for application in variety identification, which could be efficiently applied to variety authentication, variety monitoring, as well as the protection of intellectual property rights in melon. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s12870-023-04056-7.…”
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    Genetic diversity analysis and variety identification using SSR and SNP markers in melon
  10. 12110
    “…Research engagement was defined as a ‘deliberate set of intellectual and practical activities undertaken by health care staff and organisations to conduct research’. …”
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    Describing the evidence-base for research engagement by health care providers and health care organisations: a scoping review
  11. 12111
    “…Children with autism (adjusted odds ratio [aOR] = 5.56, 95% CI: 1.23–25.23) and intellectual disabilities (aOR = 5.84, 95% CI: 1.59–21.51) were more likely to be overweight and obese than those with sensory disabilities. …”
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    Accommodation and disability-specific differences in nutritional status of children with disabilities in Kathmandu, Nepal: A cross-sectional study
  12. 12112
    “…Clinical features are frequently associated with moderate to severe intellectual disability, autistic traits and speech and motor delays. …”
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    Impaired neurogenesis and neural progenitor fate choice in a human stem cell model of SETBP1 disorder
  13. 12113
    “…EXPOSURES: Disability status, including physical (spinal cord injury or mobility impairment), sensory (visual or hearing impairments), developmental (intellectual or developmental disability or autism), and cognitive (traumatic brain injury) disabilities. …”
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    Quality of Opioid Use Disorder Treatment for Persons With and Without Disabling Conditions
  14. 12114
    Publicado 1993
    Tabla de Contenidos: “…Glazier -- Involvement, detachment, and representation on Corsica / Alexandra Jaffe -- Fieldwork in Quebec, scholarly reviews, and anthropological dialogues / Richard Handler -- The student of culture and the ethnography of Irish intellectuals / Elizabeth A. Sheehan -- Whose history is it? …”
    Libro
    When they read what we write : the politics of ethnography /
  15. 12115
    por Shanahan, Phiala, Terao, Kazuhiro, Whiteson, Daniel, Aarts, Gert, Adelmann, Andreas, Akchurin, N., Alexandru, Andrei, Amram, Oz, Andreassen, Anders, Apresyan, Artur, Avestruz, Camille, Bartoldus, Rainer, Bechtol, Keith, Benkendorfer, Kees, Benelli, Gabriele, Bernius, Catrin, Bogatskiy, Alexander, Bortolato, Blaz, Boyda, Denis, Brooijmans, Gustaaf, Calafiura, Paolo, Calì, Salvatore, Canelli, Florencia, Chachamis, Grigorios, Chekanov, S.V., Chen, Deming, Chen, Thomas Y., Ćiprijanović, Aleksandra, Collins, Jack H., Connolly, J. Andrew, Coughlin, Michael, Dai, Biwei, Damgov, J., DeZoort, Gage, Diaz, Daniel, Dillon, Barry M., Dinu, Ioan-Mihail, Dong, Zhongtian, Donini, Julien, Duarte, Javier, Dugad, S., Dvorkin, Cora, Faroughy, D.A., Feickert, Matthew, Feng, Yongbin, Fenton, Michael, Foreman, Sam, De Freitas, Felipe F., Funcke, Lena, C, P.g., Gandrakota, Abhijith, Ganguly, Sanmay, Garrison, Lehman H., Gessner, Spencer, Ghosh, Aishik, Gonsk, Julia, Graham, Matthew, Gray, Lindsey, Grönroos, S., Hackett, Daniel C., Harris, Philip, Hauck, Scott, Herwig, Christian, Holzman, Burt, Hopkins, Walter, Hsu, Shih-Chieh, Huang, Jin, Huang, Yi, Jin, Xiao-Yong, Kagan, Michael, Kah, Alan, Kamenik, Jernej F., Kansal, Raghav, Karagiorgi, Georgia, Kasieczka, Gregor, Katsavounidis, Erik, Khoda, Elham E., Khosa, Charanjit K., Kipf, Thomas, Komiske, Patrick, Komm, Matthias, Kondor, Risi, Kourlitis, Evangelos, Krause, Claudius, Lamichhane, K., Le Pottier, Luc, Lin, Meifeng, Lin, Yin, Liu, Mia, Lu, Nan, Lucini, Biagio, Martinez, J., Martín-Ramiro, Pablo, Matevc, Andrej, McCormack, William Patrick, Metodiev, Eric, Mikuni, Vinicius, Miller, David W., Mishra-Sharma, Siddharth, Mukherjee, Samadrita, Murnane, Daniel, Nachman, Benjamin, Narayan, Gautham, Neubauer, Mark, Ngadiuba, Jennifer, Norberg, Scarlet, Nord, Brian, Ochoa, Inês, Offermann, Jan T., Park, Sang Eon, Pedro, Kevin, Peña, Cristían, Perloff, Alexx, Pettee, Mariel, Pierini, Maurizio, Quast, T., Rankin, Dylan, Ren, Yihui, Rieger, Marcel, Vlimant, Jean-Roch, Roy, Avik, Sanz, Veronica, Sarda, Nilai, Savard, Claire, Scheinker, Alexander, Uros, Seljak, Sheldon, Brian, Shih, David, Shimmin, Chase, Smolkovic, Aleks, Stein, George, Mantilla Suarez, Cristina, Szewc, Manuel, Thais, Savannah, Thaler, Jesse, Torbunov, Dmitrii, Tran, Nhan, Tsan, Steven, Udrescu, Silviu-Marian, Undleeb, S., Vaslin, Louis, Villaescusa-Navarro, Francisco, Villar, V.Ashley, Viren, Brett, Vlimant, Jean-Roch, Whitbeck, A., Williams, Daniel, Winklehner, Daniel, Xie, Si, Yang, Tingjun, Yu, Haiwang, Yunus, Mikaeel
    Publicado 2022
    “…There is an urgent need to support the needs of the interdisciplinary community driving these developments, including funding dedicated research at the intersection of the two fields, investing in high-performance computing at universities and tailoring allocation policies to support this work, developing of community tools and standards, and providing education and career paths for young researchers attracted by the intellectual vitality of machine learning for high energy physics.…”
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    Snowmass 2021 Computational Frontier CompF03 Topical Group Report: Machine Learning
  16. 12116
    por Posada González, Nubia Leonor
    Publicado 2017
    “…Researchers have taken into account that the expression “State of the Art” and the way it has permeated the intellectual work of the academic institution and international organizations, concluding that a systemic conceptualization of the idea of state-of-the-art research that impacts scientific knowledge that contributes human development would be useful.…”
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    Some ideas and applications of “State of the Art” documental research
  17. 12117
    “…Moreover, we hypothesized that KMT2B gene duplication might be associated with intellectual disability. Conclusion: Our results show the utility of CMA for precise genetic diagnosis and its integration into the diagnosis, therapy and management of NDD patients.…”
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    Construction of copy number variation landscape and characterization of associated genes in a Bangladeshi cohort of neurodevelopmental disorders
  18. 12118
    “…Participants were recruited from a population-based health plan in Barcelona, Spain, and from a convenience sample recruited via services for people with intellectual disabilities in England and Scotland. They underwent assessment with the Cambridge Cognitive Examination for Older Adults with Down Syndrome, modified cued recall test and determinations of brain amyloidosis (CSF amyloid-β 42 / 40 and amyloid-PET), tau pathology (CSF and plasma phosphorylated-tau181) and neurodegeneration biomarkers (CSF and plasma neurofilament light, total-tau, fluorodeoxyglucose-PET and MRI). …”
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    Association of biological sex with clinical outcomes and biomarkers of Alzheimer’s disease in adults with Down syndrome
  19. 12119
    “…METHODS: This cross-sectional study conducted 6 months after the blast included adults on hemodialysis, with no previous diagnoses of dementia or intellectual disability. It explores prevalence rates of psychiatric disorders, in addition to other medical and psychosocial variables such as frailty, malnutrition, sarcopenia, quality of life and religiosity. …”
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    Anxiety, depression and post-traumatic stress disorder in patients on hemodialysis in the setting of the pandemic, inflation, and the Beirut blast: a cross-sectional study
  20. 12120
    “…INTRODUCTION: The most common chromosomal anomaly is Down syndrome/Trisomy 21, which can be associated with varying degrees of intellectual disability and physical malformation. Specific orofacial characteristics regarding orthodontic treatment options and features are described on the basis of a patient collective from the Witten/Herdecke University, Germany. …”
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    Orofacial findings and orthodontic treatment conditions in patients with down syndrome – a retrospective investigation
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