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  1. 11061
    por Priya S, Sasi, Raj, Satya
    Publicado 2022
    “…CASE REPORT: A 7-year-old, girl, studying kindergarten, coming from a middle socio-economic status, living in a nuclear family set-up was diagnosed with Sanfillipo syndrome with co-morbid ADHD and moderate intellectual disability. Born to third degree consanguineous parents her ante-natal, natal and immediate post-natal period was uneventful. …”
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    Challenges in the treatment of neurodevelopmental disorder: Sanfilippo syndrome – a multimodal treatment approach.
  2. 11062
    “…Our findings provide additional evidence suggesting the effectiveness of beneficial effects of aquatic activities on the motor and social skills that underpin the hypothesis that motor and intellectual domains are highly interrelated in autistic children.…”
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    Effects of Aquatic Training in Children with Autism Spectrum Disorder
  3. 11063
    “…Here we classify clinical phenotypes of 179 individuals with 38 recurrent SCN2A variants as early-infantile or later-onset epilepsy, or intellectual disability/autism spectrum disorder (ID/ASD) and assess the functional impact of 13 variants using dynamic action potential clamp (DAPC) and voltage clamp. …”
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    Functional correlates of clinical phenotype and severity in recurrent SCN2A variants
  4. 11064
    “…One such RNA-binding protein is ZC3H14, which is lost in an inherited intellectual disability. The Drosophila melanogaster ZC3H14 ortholog, Nab2, localizes to neuronal nuclei and cytoplasmic ribonucleoprotein granules and is required for olfactory memory and proper axon projection into brain mushroom bodies. …”
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    The Nab2 RNA-binding protein patterns dendritic and axonal projections through a planar cell polarity-sensitive mechanism
  5. 11065
    “…Children who received craniospinal irradiation are most often confronted with intellectual decline and worsening of QoL.…”
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    QOL-16. A 6-year longitudinal study of neurocognition in children treated for a brain tumor
  6. 11066
    “…Germ-line mutations in this gene are associated with facial, cardiac malformations, variable intellectual deficiency, and musculoskeletal abnormalities. …”
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    NFB-07. Meningiomatosis in an adolescent with TRAF-7 mutation related syndrome
  7. 11067
    “…BACKGROUND: The developmental and epileptic encephalopathies (DEEs) are the most severe group of epilepsies which co-present with developmental delay and intellectual disability (ID). DEEs usually occur in people without a family history of epilepsy and have emerged as primarily monogenic, with damaging rare mutations found in 50% of patients. …”
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    The role of common genetic variation in presumed monogenic epilepsies
  8. 11068
    “…The most common clinical findings were brain abnormalities (100%) in fetuses observed by ultrasonography followed by developmental delay and intellectual disability (81%), brain abnormalities (72%), facial dysmorphism (66%), hypotonia (63%), learning difficulty or language delay (50%), and seizures (47%) in pediatric and adult patients. …”
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    Genotype–Phenotype Correlations for Putative Haploinsufficient Genes in Deletions of 6q26-q27: Report of Eight Patients and Review of Literature
  9. 11069
    “…Levels above the 90th percentile of IL-1β (OR = 2.31, 95% CI 1.16–4.60), IL-7 (OR = 2.28, 95% CI 1.20–4.33), IL-13 (OR = 2.42, 95% CI 1.29–4.55), and MCP-1 (OR = 2.09, 95% CI 1.03–4.24) were associated with increased odds of ASD with co-occurring intellectual disability (ID), whereas GMCSF (OR = 2.06, 95% CI 1.03–4.11) and TNF-α (OR = 2.31, 95% CI 1.18–4.50) were associated with increased odds of ASD with ADHD but none survived correction for multiple comparisons. …”
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    Maternal Levels of Cytokines in Early Pregnancy and Risk of Autism Spectrum Disorders in Offspring
  10. 11070
    “…Recently, we developed a cognitive intervention program called Photo-Integrated Conversation Moderated by Robots (PICMOR), which utilizes one of the most intellectual activities of daily life, conversations. …”
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    Tract-Based Spatial Statistics Analysis of Diffusion Tensor Imaging in Older Adults After the PICMOR Intervention Program: A Pilot Study
  11. 11071
    “…This study outlines the Guatemalan scientific diasporas' networking as a mechanism for building research excellence and intellectual capital. This force could respond to the need to strengthen the national science capacities and meet the demands for knowledge production and access to broader sectors of society. …”
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    Engaging the Guatemala Scientific Diaspora: The Power of Networking and Shared Learning
  12. 11072
    “…Prenatal ethanol exposure is one of the leading causes of preventable intellectual disability. Its neurobehavioral underpinnings warrant systematic research. …”
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    Binge-like Prenatal Ethanol Exposure Causes Impaired Cellular Differentiation in the Embryonic Forebrain and Synaptic and Behavioral Defects in Adult Mice
  13. 11073
    por Wu, Qiong, Kong, Hui, Shen, Yanyan, Chen, Jing
    Publicado 2022
    “…Partial trisomy 9p is one of the most frequent autosome anomalies in newborn infants featured by craniofacial dysmorphism, intellectual disability and psychomotor growth. Female patients carrying monosomy Xq usually show mild symptoms due to skewed X-chromosome inactivation (XCI). …”
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    Molecular cytogenetic characterization of a de novo derivative chromosome X with an unbalanced t(X;9) translocation in a fetus and literature review
  14. 11074
    “…A moderate/severe intellectual disability was assessed in 58/69 patients (mean age at the first signs of developmental impairment = 1,87 ± 1,72 years). …”
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    Presenting Patterns of Genetically Determined Developmental Encephalopathies With Epilepsy and Movement Disorders: A Single Tertiary Center Retrospective Cohort Study
  15. 11075
    “…For the first time, we observed intellectual disability in three patients. One patient developed epilepsy, and her brain MRI revealed frontal and temporal lobe atrophy without changes in white matter and corpus callosum. …”
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    Novel heterozygous variants of SLC12A6 in Japanese families with Charcot–Marie–Tooth disease
  16. 11076
    “…The annual productivity of IBS research, and the most prolific countries or regions, authors, journals and resource-, intellectual- and knowledge-sharing in IBS research, as well as co-citation analysis of references and keywords were analyzed through Microsoft Office Excel 2019, CiteSpace, and VOSviewer. …”
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    Global Research Trends in Irritable Bowel Syndrome: A Bibliometric and Visualized Study
  17. 11077
    “…Parents of the ADHD + autism group reported higher proportions of intellectual disability (5.37%), oppositional defiant disorder (20.13%), anxiety (38.93%), depression (6.71%) and genetic conditions (3.36%) in their children, in comparison to the parents of the ADHD and autism groups. …”
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    Understanding the Diversity of Pharmacotherapeutic Management of ADHD With Co-occurring Autism: An Australian Cross-Sectional Survey
  18. 11078
    “…Trisomy 6q is a recognizable syndrome which exhibits psychomotor/growth retardation, developmental/intellectual disabilities, feeding difficulties, facial dysmorphism, hearing loss, brain and heart malformations. …”
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    Prenatal detection of pure proximal 6q14.1 microduplication encompassing LCA5 gene: A variant of likely benign
  19. 11079
    “…CASE PRESENTATION: The patient was an 8-year-old Chinese boy who presented with postnatal motor retardation, intellectual disability, short stature, language development retardation, coarse facial features, hepatomegaly, and diffuse angiokeratoma of both palms. …”
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    An unusual presentation of fucosidosis in a Chinese boy: a case report and literature review (childhood fucosidosis)
  20. 11080
    “…AIMS: Dysregulation of histone methylation epigenetic marks may result in intellectual and developmental disability, as seen in Kabuki syndrome. …”
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    Safety, pharmacokinetics and pharmacodynamics of TAK‐418, a novel inhibitor of the epigenetic modulator lysine‐specific demethylase 1A
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