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  1. 11801
    “…Alzheimer’s disease (AD) is a chronic brain disorder characterized by progressive intellectual decline and memory and neuronal loss, caused mainly by extracellular deposition of amyloid-β (Aβ) and intracellular accumulation of hyperphosphorylated tau protein, primarily in areas implicated in memory and learning as prefrontal cortex and hippocampus. …”
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    A Three-Dimensional Alzheimer’s Disease Cell Culture Model Using iPSC-Derived Neurons Carrying A246E Mutation in PSEN1
  2. 11802
    “…Rubinstein-Taybi syndrome (RSTS) is a rare multisystem developmental disorder with moderate to severe intellectual disability caused by heterozygous mutations of either CREBBP or EP300 genes encoding CBP/p300 chromatin regulators. …”
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    Transcriptome Analysis of iPSC-Derived Neurons from Rubinstein-Taybi Patients Reveals Deficits in Neuronal Differentiation
  3. 11803
    “…The main findings are that target population could be larger for instance including hospice patients for palliative care, group dwelling for people with intellectual disabilities, or psychiatric patients, population health may be improved, image quality seems to be good and mobile X-ray may be cost effective. …”
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    Mobile X-ray outside the hospital: a scoping review
  4. 11804
    “…Because of his history of seizures with infantile onset, deceleration of head growth with microcephaly, ataxia, and moderate intellectual disability, a lumbar puncture was performed, which revealed a low CSF glucose concentration with a very low CSF-to-blood glucose ratio (< 0.4), and genetic tests detected a SLC2A1 gene exon 1 deletion confirming a diagnosis of GLUT1DS. …”
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    A case report of glucose transporter 1 deficiency syndrome with growth hormone deficiency diagnosed before starting ketogenic diet
  5. 11805
    “…We also assessed visual perception and general intellectual function using standard neuropsychological tests. …”
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    Spatial navigation ability is associated with the assessment of smoothness of driving during changing lanes in older drivers
  6. 11806
    “…It is characterized by variable sizes and deletion breakpoints on the long arm (q) of chr 21 that lead to a broad spectrum of phenotypes that include an increased risk of birth defects, developmental delay and intellectual deficit. CASE PRESENTATION: We report a 37-year-old G1P0 woman initially screened by non-invasive prenatal testing with no positive findings that was followed by an 18-week anatomy scan with a fetal finding of duplication of the superior vena cava (SVC). …”
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    De novo mosaic and partial monosomy of chromosome 21 in a case with superior vena cava duplication
  7. 11807
    “…Participants completed an intellectual/developmental functioning assessment and the Autism Diagnostic Observation Schedule-2nd Edition. …”
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    Relationships between UBE3A and SNORD116 expression and features of autism in chromosome 15 imprinting disorders
  8. 11808
    “…DISCUSSION: Iodine deficiency early during development precludes children from achieving full intellectual capabilities. This protocol describes a study that is innovative and unique in its detailed and comprehensive evaluation of maternal and child endocrine and psychomotor parameters. …”
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    Impact of iodine supplementation during preconception, pregnancy and lactation on maternal thyroid homeostasis and offspring psychomotor development: protocol of the IodineMinho prospective study
  9. 11809
    “…This study provides new insight into how MeCP2 regulates brain function, particularly cognitive abilities, and sheds light onto the pathophysiological mechanisms of Rett syndrome, that is characterized by intellectual disability and caused by mutations in the Mecp2 gene.…”
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    MeCP2 gates spatial learning-induced alternative splicing events in the mouse hippocampus
  10. 11810
    “…The baseline severity of the spike-wave index (SWI) was not significantly correlated with intellectual disability (ID) level. Two pathogenic de novo GRIN2A null variants were identified in patients with ABPE who had less severe ID, despite the electrical status epilepticus during slow-wave sleep (ESES). …”
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    Clinical Forms and GRIN2A Genotype of Severe End of Epileptic-Aphasia Spectrum Disorder
  11. 11811
    “…These patients exhibit a broad spectrum of clinical findings, suggesting an overlapping disease manifestation with intermixed phenotypes ranging from neuropathy (peripheral nervous system, PNS) to severe intellectual disability (central nervous system, CNS). …”
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    The clinical-phenotype continuum in DYNC1H1-related disorders—genomic profiling and proposal for a novel classification
  12. 11812
    “…Academic and Indigenous youth researchers were: participant observers; conducted a focus group; and designed and implemented an online survey with Indigenous youth project participants. Governance, intellectual property, financial terms and respective academic and NYSHN roles and responsibilities were negotiated using a customized community research agreement. …”
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    Meeting Indigenous youth where they are at: knowing and doing with 2SLGBTTQQIA and gender non-conforming Indigenous youth: a qualitative case study
  13. 11813
    “…No significant post-lockdown acceleration was observed for children/adolescents, older adults, people of ethnic minorities, married/cohabiting people, and those who had previous/pre-existing dementia, diabetes, cancer, eating disorder, a history of self-harm, or intellectual disability. This evidence may help service planning and policy-making, including preparation for any future lockdown in response to outbreaks.…”
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    The Medium-Term Impact of COVID-19 Lockdown on Referrals to Secondary Care Mental Health Services: A Controlled Interrupted Time Series Study
  14. 11814
    “…Among these patients, 55% had rare diseases (hemoglobinopathies, intellectual disabilities, disorders of sex differentiation, myopathies, etc.), 13% had lung cancer, 4% suffered from hematological neoplasms, 3% were from the kidney transplantation project, and 25% had unknown diagnoses. …”
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    Morocco's First Biobank: Establishment, Ethical Issues, Biomedical Research Opportunities, and Challenges
  15. 11815
    “…Fragile X syndrome (FXS) is the leading monogenetic cause of autism spectrum disorder and inherited cause of intellectual disability that affects approximately one in 7,000 males and one in 11,000 females. …”
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    GABA Measurement in a Neonatal Fragile X Syndrome Mouse Model Using (1)H-Magnetic Resonance Spectroscopy and Mass Spectrometry
  16. 11816
    “…BACKGROUND: Maple syrup urine disease (MSUD) is an inherited disorder clinically characterized by ketoacidosis, seizures, coma, psychomotor delay, and intellectual disability. The treatment requires a life-long protein-restricted diet, rich in carbohydrates and fats, supplemented with a medical amino acid formula. …”
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    Oral health status of children and young adults with maple syrup urine disease in Turkey
  17. 11817
    por Kesserwani, Hassan
    Publicado 2020
    “…Immanuel Kant, in his Critique of Pure Reason, provided the intellectual and theoretical framework for a theory of mind or consciousness.  …”
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    The Clinical, Philosophical, Evolutionary and Mathematical Machinery of Consciousness: An Analytic Dissection of the Field Theories and a Consilience of Ideas
  18. 11818
    “…Deletions occurring at chromosome 3p result in 3p-deletion syndrome (Del3p), a rare genetic disorder characterized by developmental delay, intellectual disability, facial dysmorphisms and often, ASD or ASD-associated behaviors. …”
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    Cell Adhesion Molecules Involved in Neurodevelopmental Pathways Implicated in 3p-Deletion Syndrome and Autism Spectrum Disorder
  19. 11819
    “…The clinical picture includes the regression of acquired motor milestones, spasticity, ataxia, seizures, nystagmus, and intellectual disabilities. Morphologically, HBSL is characterized by a distinct pattern of hypomyelination in the central nervous system including the anterior brainstem, the cerebellar peduncles and the supratentorial white matter as well as the dorsal columns and the lateral corticospinal tracts of the spinal cord. …”
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    A Hypomorphic Dars1(D367Y) Model Recapitulates Key Aspects of the Leukodystrophy HBSL
  20. 11820
    “…Inaccessible WASH facilities were a major challenge for people with mobility, self-care and visual impairments. People with intellectual impairments had difficulty accessing MHM information and their carers despaired when they showed their menstrual blood to others, which could result in abuse. …”
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    Qualitative study exploring the barriers to menstrual hygiene management faced by adolescents and young people with a disability, and their carers in the Kavrepalanchok district, Nepal
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