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  1. 10761
    “…Fragile X syndrome (FXS) is a neurodevelopmental disorder that causes intellectual disability. It is a leading known genetic cause of autism. …”
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    Sensory Processing Phenotypes in Fragile X Syndrome
  2. 10762
    “…Two aimed to incorporate as many aspects of forensic psychiatric care as possible, one investigated non-pharmacological interventions to reduce aggression in forensic psychiatric care, and one focused on women with intellectual disabilities in forensic care. However, most of the primary studies included in these reviews had high risks of bias, and therefore, no conclusions could be drawn. …”
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    Mapping Systematic Reviews on Forensic Psychiatric Care: A Systematic Review Identifying Knowledge Gaps
  3. 10763
    “…Phelan–McDermid syndrome (PMS) is a rare genetic disorder in which one copy of the SHANK3 gene is missing or mutated, leading to a global developmental delay, intellectual disability (ID), and autism. Multiple intragenic promoters and alternatively spliced exons are responsible for the formation of numerous isoforms. …”
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    Behavioral Phenotyping of an Improved Mouse Model of Phelan–McDermid Syndrome with a Complete Deletion of the Shank3 Gene
  4. 10764
    por Priolo, Manuela, Schanze, Denny, Tatton‐Brown, Katrin, Mulder, Paul A., Tenorio, Jair, Kooblall, Kreepa, Acero, Inés Hernández, Alkuraya, Fowzan S., Arias, Pedro, Bernardini, Laura, Bijlsma, Emilia K., Cole, Trevor, Coubes, Christine, Dapia, Irene, Davies, Sally, Di Donato, Nataliya, Elcioglu, Nursel H., Fahrner, Jill A., Foster, Alison, González, Noelia García, Huber, Ilka, Iascone, Maria, Kaiser, Ann‐Sophie, Kamath, Arveen, Liebelt, Jan, Lynch, Sally Ann, Maas, Saskia M., Mammì, Corrado, Mathijssen, Inge B., McKee, Shane, Menke, Leonie A., Mirzaa, Ghayda M., Montgomery, Tara, Neubauer, Dorothee, Neumann, Thomas E., Pintomalli, Letizia, Pisanti, Maria Antonietta, Plomp, Astrid S., Price, Sue, Salter, Claire, Santos‐Simarro, Fernando, Sarda, Pierre, Segovia, Mabel, Shaw‐Smith, Charles, Smithson, Sarah, Suri, Mohnish, Valdez, Rita Maria, Van Haeringen, Arie, Van Hagen, Johanna M., Zollino, Marcela, Lapunzina, Pablo, Thakker, Rajesh V., Zenker, Martin, Hennekam, Raoul C.
    Publicado 2018
    “…Cardinal facial characteristics include long, triangular face, macrocephaly, prominent forehead, everted lower lip, and prominent chin. Intellectual disability is universally present, behaviorally anxiety is characteristic. …”
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    Further delineation of Malan syndrome
  5. 10765
    “…Stormorken syndrome is a rare autosomal dominant disease that is characterized by a complex phenotype that includes tubular aggregate myopathy (TAM), bleeding diathesis, hyposplenism, mild hypocalcemia and additional features, such as miosis and a mild intellectual disability (dyslexia). Stormorken syndrome is caused by autosomal dominant mutations in the STIM1 gene, which encodes an endoplasmic reticulum Ca(2+) sensor. …”
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    Stormorken Syndrome Caused by a p.R304W STIM1 Mutation: The First Italian Patient and a Review of the Literature
  6. 10766
    “…Her visual impairment was evident in a number of standardized tests and psychophysics, especially in tasks assessing spatial integration using illusory contours. However, her intellectual ability was intact and her performance in some other tasks assessing color vision or object detection in scenes was normal. …”
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    Unexplained Progressive Visual Field Loss in the Presence of Normal Retinotopic Maps
  7. 10767
    “…BACKGROUND: The inclusion of patent linkage mechanisms in bilateral and plurilateral trade and investment agreements has emerged as a key element in the United States’ TRIPS-Plus intellectual property (IP) negotiating agenda. However, the provisions establishing patent linkage mechanisms in several agreements appear to reflect a degree of ambiguity, potentially enabling some flexibility in their implementation. …”
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    Moderating the impact of patent linkage on access to medicines: lessons from variations in South Korea, Australia, Canada, and the United States
  8. 10768
    “…BACKGROUND: Microdeletion of 1q43q44 causes a syndrome characterized by intellectual disability (ID), speech delay, seizures, microcephaly (MIC), corpus callosum abnormalities (CCA) and characteristic facial features. …”
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    Cytogenomic characterization of 1q43q44 deletion associated with 4q32.1q35.2 duplication and phenotype correlation
  9. 10769
    “…BACKGROUND: Fetal alcohol spectrum disorder (FASD) is among the leading causes of developmental and intellectual disabilities in individuals. Although efforts are being made toward the prevention and management of FASD in South Africa, the prevalence remains high. …”
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    Exploring service providers’ perspectives on the prevention and management of fetal alcohol spectrum disorders in South Africa: a qualitative study
  10. 10770
    por Dunphy, Kim F., Hens, Tessa
    Publicado 2018
    “…MARA is applied in a program for adults with intellectual disability (ID) over 16 weeks. Assessment data is gathered utilizing the app's features: two researcher-therapists undertake quantitative scoring that MARA aggregates into graphs, substantiated by qualitative note-taking, photos, and videos; and clients provide feedback about their progress stimulated by viewing photos and videos. …”
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    Outcome-Focused Dance Movement Therapy Assessment Enhanced by iPad App MARA
  11. 10771
    “…Specifically, it cultivates an ability to assess the quality and durability of current knowledge and contributes to the growth of resilience, humility and intellectual curiosity. Especially for Infectious Diseases, knowledge of its history fosters an appreciation for our evolving understanding of the field and an opportunity to spark interest in a future career. …”
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    1316. An Integrative Approach to Teaching History of Medicine in Medical School
  12. 10772
    “…According to the cognitive reserve theory, intellectual stimuli acquired during life can prevent against developing cognitive impairment. …”
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    Primary School Education May Be Sufficient to Moderate a Memory-Hippocampal Relationship
  13. 10773
    “…METHODS: In this multicenter, in-home, prospective, video-controlled cohort study, nocturnal seizures were detected by heart rate (photoplethysmography) or movement (3-D accelerometry) in persons with epilepsy and intellectual disability. Participants with >1 monthly major seizure wore a bracelet (Nightwatch) on the upper arm at night for 2 to 3 months. …”
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    Multimodal nocturnal seizure detection in a residential care setting: A long-term prospective trial
  14. 10774
    “…In both devolution and priority-setting, actors seek to exert power through influence and control over material, human, intellectual and financial resources. Priority-setting arises as a consequence of the needs and demand exceeding the resources available, requiring some means of choosing between competing demands. …”
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    “Sometimes it is difficult for us to stand up and change this”: an analysis of power within priority-setting for health following devolution in Kenya
  15. 10775
    “…Finally, we used this data resource to elucidate the functional impact of genetic risk loci for intellectual disability, converging on gliogenesis, myelination and ATP-metabolism modules in the proteome and transcriptome. …”
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    Temporal proteomic profiling of postnatal human cortical development
  16. 10776
    “…CdCS is a genetic disease resulting from a deletion of variable size occurring on the short arm of chromosome 5 (5p-), whose main feature is a high-pitched mewing cry in infancy, accompanied by multiple congenital anomalies, intellectual disability, microcephaly and facial dysmorphism. …”
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    Cri-du-chat syndrome mimics Silver-Russell syndrome depending on the size of the deletion: a case report
  17. 10777
    “…Children attending the 3rd grade (n = 74, 40 girls; mean age 8.31 years) were pseudorandomly divided into three groups, music, sports and control that were matched on demographic and intellectual characteristics. Fine motor abilities were assessed with the Purdue pegboard test (eye-hand coordination and motor speed, both subsumed under manual dexterity, and bimanual coordination) and with the Grooved pegboard (manipulative dexterity) test. …”
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    Orff-Based Music Training Enhances Children’s Manual Dexterity and Bimanual Coordination
  18. 10778
    “…PATIENT CONCERNS: The patient was an 11-year-old girl with onset of seizures at the age of 18 months and followed by progressive intellectual disability (ID) later. DIAGNOSIS: The girl was diagnosed as EFMR when a novel deletion mutation c.2468delT at exon 3 of PCDH19 was found. …”
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    Case report of a novel PCDH19 frameshift mutation in a girl with epilepsy and mental retardation limited to females
  19. 10779
    “…CNTNAP2 was first implicated in the cortical dysplasia-focal epilepsy (CDFE) syndrome, a recessive disease characterized by intellectual disability, epilepsy, language impairments and autistic features. …”
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    Comprehensive cross-disorder analyses of CNTNAP2 suggest it is unlikely to be a primary risk gene for psychiatric disorders
  20. 10780
    “…This syndrome is phenotypically characterized by global developmental delays, intellectual disabilities, speech impediments, and motor dysfunctions. …”
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    The autism/neuroprotection-linked ADNP/NAP regulate the excitatory glutamatergic synapse
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