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  1. 10021
    “…Mutations in TCF4, MEF2C, UBE3A, ZEB2 or ATRX cause phenotypically overlapping, syndromic forms of NDDs with severe intellectual disability, epilepsy and microcephaly. To characterize potential functional links between these genes/proteins, we screened for genetic interactions in Drosophila melanogaster. …”
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    Genetic interaction screen for severe neurodevelopmental disorders reveals a functional link between Ube3a and Mef2 in Drosophila melanogaster
  2. 10022
    “…The proposed cGDM provides a data-layer infrastructure supporting the intellectual interplay between medical experts and informed decision-making.…”
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    Clinical Genome Data Model (cGDM) provides Interactive Clinical Decision Support for Precision Medicine
  3. 10023
    “…It is characterized by a typical facial gestalt in combination with short stature, intellectual disability, skeletal findings and additional features like cardiac and urogenital malformations, cleft palate, hearing loss and ophthalmological anomalies. …”
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    The histone methyltransferase KMT2D, mutated in Kabuki syndrome patients, is required for neural crest cell formation and migration
  4. 10024
    “…Associations between burnout and factors related to physical work environment, workload and schedule, compensation package, interpersonal relationships, intellectual enrichment, and exposure to ethical conflicts were analyzed. …”
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    Investigation of burnout syndrome and job‐related risk factors in veterinary technicians in specialty teaching hospitals: a multicenter cross‐sectional study
  5. 10025
    “…Ten of 51 had MBD plus neuronopathic manifestations including intellectual/developmental/speech delay, spasticity, ataxia dystonia. …”
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    Morquio‐B disease: Clinical and genetic characteristics of a distinct GLB1‐related dysostosis multiplex
  6. 10026
    “…From an early age, clinical history shows anomalous motor manifestations, initially framed as a form of focal epilepsy or ordinary disorders of the mood sphere, later excluded by the lack of effectiveness of a targeted therapy. Despite this, intellectual, psychological, and socio-emotional development was regular. …”
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    A Case of Hyperekplexia That Started From Childhood: Clinical Diagnosis With Negative Genetic Investigations
  7. 10027
    “…Sensitivity analysis identified that the parameters most influential in affecting cost-effectiveness were the prevalence of ASD and/or co-occurring intellectual disability. MRI specificity also has significant impacts which add to the uncertainty of the results. …”
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    Cost-Effectiveness of MRI-Based Identification of Presymptomatic Autism in a High-Risk Population
  8. 10028
    “…The 1.6 Mbp deletion on chromosome 3q29 is associated with a range of neurodevelopmental disorders, including schizophrenia, autism, microcephaly, and intellectual disability. Despite its importance towards neurodevelopment, the role of individual genes, genetic interactions, and disrupted biological mechanisms underlying the deletion have not been thoroughly characterized. …”
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    NCBP2 modulates neurodevelopmental defects of the 3q29 deletion in Drosophila and Xenopus laevis models
  9. 10029
    “…Pogo transposable element derived with ZNF domain (POGZ) has been identified as one of the most recurrently de novo mutated genes in patients with neurodevelopmental disorders (NDDs), including autism spectrum disorder (ASD), intellectual disability and White-Sutton syndrome; however, the neurobiological basis behind these disorders remains unknown. …”
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    Pathogenic POGZ mutation causes impaired cortical development and reversible autism-like phenotypes
  10. 10030
    “…Heterozygous inherited mutations in their principle subunits K(v)7.2/KCNQ2 and K(v)7.3/KCNQ3 cause benign familial neonatal epilepsy whereas patients with de novo heterozygous K(v)7.2 mutations are associated with early‐onset epileptic encephalopathy and neurodevelopmental disorders characterized by intellectual disability, developmental delay and autism. …”
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    Heterozygous loss of epilepsy gene KCNQ2 alters social, repetitive and exploratory behaviors
  11. 10031
    “…Mutations in MED12 cause X-linked intellectual disability and other anomalies collectively grouped as MED12-related disorders. …”
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    MED12-Related Disease in a Chinese Girl: Clinical Characteristics and Underlying Mechanism
  12. 10032
    “…Neonatal hypoxic-ischaemic encephalopathy (HIE) is a serious condition; many survivors develop neurological impairments, including cerebral palsy and intellectual disability. Preclinical studies show that the systemic administration of umbilical cord blood cells (UCBCs) is beneficial for neonatal HIE. …”
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    Autologous cord blood cell therapy for neonatal hypoxic-ischaemic encephalopathy: a pilot study for feasibility and safety
  13. 10033
    “…However, difficulties in acquiring fine-grained empirical financial data, due to regulatory limitations, intellectual property and privacy control, still hinder the application of network analysis to financial markets. …”
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    Network Dynamics of a Financial Ecosystem
  14. 10034
    por Mohammed, Manal, Omar, Nazlia
    Publicado 2020
    “…Thus, many lecturers rely on Bloom’s taxonomy cognitive domain, which is a popular framework developed for the purpose of assessing students’ intellectual abilities and skills. Several works have been proposed to automatically handle the classification of questions in accordance with Bloom’s taxonomy. …”
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    Question classification based on Bloom’s taxonomy cognitive domain using modified TF-IDF and word2vec
  15. 10035
    “…Here, we applied a modified CLIP-seq strategy to identify genome-wide targets of the FMRP translational regulator 1 (FMR1), a brain-enriched RNA-BP, whose deficiency leads to Fragile X Syndrome (FXS), the most prevalent inherited intellectual disability. We identified FMR1 targets in human dorsal and ventral forebrain neural progenitors and excitatory and inhibitory neurons differentiated from human pluripotent stem cells. …”
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    Identification of FMR1-regulated molecular networks in human neurodevelopment
  16. 10036
    “…Participants also ranked specific homeless sub-populations in need of additional research including: Indigenous Peoples (First Nations, Métis, and Inuit); youth, women and families; people with acquired brain injury, intellectual or physical disabilities; and refugees and other migrants. …”
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    Establishing need and population priorities to improve the health of homeless and vulnerably housed women, youth, and men: A Delphi consensus study
  17. 10037
    “…The wide range of novels PV made it difficult to establish any genotype-phenotype correlation, but most of the PV conditioned neurological involvement (intellectual disability and epilepsy). Our 3D protein modeling of two variants classified as likely pathogenic demonstrated that they could alter the structure and function of the hamartin (TSC1) or tuberin (TSC2) proteins. …”
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    First comprehensive TSC1/TSC2 mutational analysis in Mexican patients with Tuberous Sclerosis Complex reveals numerous novel pathogenic variants
  18. 10038
    por Torti, Erin, Keren, Boris, Palmer, Elizabeth E., Zhu, Zehua, Afenjar, Alexandra, Anderson, Ilse. J., Andrews, Marisa V., Atkinson, Celia, Au, Margaret, Berry, Susan A., Bowling, Kevin M., Boyle, Jackie, Buratti, Julien, Cathey, Sara S., Charles, Perrine, Cogne, Benjamin, Courtin, Thomas, Escobar, Luis F., Finley, Sabra Ledare, Graham, John M., Grange, Dorothy K., Heron, Delphine, Hewson, Stacy, Hiatt, Susan M., Hibbs, Kathleen A., Jayakar, Parul, Kalsner, Louisa, Larcher, Lise, Lesca, Gaetan, Mark, Paul R., Miller, Kathryn, Nava, Caroline, Nizon, Mathilde, Pai, G. Shashidhar, Pappas, John, Parsons, Gretchen, Payne, Katelyn, Putoux, Audrey, Rabin, Rachel, Sabatier, Isabelle, Shinawi, Marwan, Shur, Natasha, Skinner, Steven A., Valence, Stephanie, Warren, Hannah, Whalen, Sandra, Crunk, Amy, Douglas, Ganka, Monaghan, Kristin G., Person, Richard E., Willaert, Rebecca, Solomon, Benjamin D., Juusola, Jane
    Publicado 2019
    “…All had developmental delay/intellectual disability. Autism spectrum disorders/autistic features were reported in 69%, attention disorders or hyperactivity in 67%, craniofacial features (no recognizable facial gestalt) in 67%, structural brain anomalies in 24%, and seizures in 12%. …”
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    Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature
  19. 10039
    por Rozado, David
    Publicado 2020
    “…Specifically, the popular embedding models analyzed here display negative biases against middle and working-class socioeconomic status, male children, senior citizens, plain physical appearance and intellectual phenomena such as Islamic religious faith, non-religiosity and conservative political orientation. …”
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    Wide range screening of algorithmic bias in word embedding models using large sentiment lexicons reveals underreported bias types
  20. 10040
    por Lentoor, Antonio G.
    Publicado 2020
    “…Global cognitive ability (Full Scale Intellectual Quotient) had no significant association with immunological status of the children. …”
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    Clinico-Immunological Status and Neurocognitive Function of Perinatally Acquired HIV-Positive Children on cART: A Cross-Sectional Correlational Study in South Africa
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