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  1. 11141
    por Zhao, Helen H., Haddad, Gabriel G.
    Publicado 2022
    “…Introduction: Down syndrome (DS) is a genetic disorder with an extra copy of chromosome 21 and DS remains one of the most common causes of intellectual disabilities in humans. All DS patients have Alzheimer’s disease (AD)-like neuropathological changes including accumulation of plaques and tangles by their 40s, much earlier than the onset of such neuropathological changes in AD patients. …”
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    Alzheimer’s disease like neuropathology in Down syndrome cortical organoids
  2. 11142
    “…Robotic technology has developed rapidly in recent years, and several robotic devices have been applied to improve physical, sensory, intellectual, psychological, and social functioning in the elderly and people with disabilities. …”
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    Effect of Exercise Using an Exoskeletal Hip-Assist Robot on Physical Function and Walking Efficiency in Older Adults
  3. 11143
    “…We also screened an age-related gut-resident Lactobacillus with independent intellectual property rights, and its metabolite (L-ascorbic acid) and itself have good antioxidant effects. …”
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    Gut microbiota as an antioxidant system in centenarians associated with high antioxidant activities of gut-resident Lactobacillus
  4. 11144
    “…OBJECTIVES: To investigate key stakeholders’ views on how to improve access to primary care in general practice settings for people with learning disabilities (or intellectual disabilities). Further to explore how inequalities and barriers in specific areas including annual health checks might be addressed. …”
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    Improving access to primary care and annual health checks for people who have a learning disability: a multistakeholder qualitative study
  5. 11145
    “…Background: Autosomal dominant mental retardation type 5 (MRD5), a rare neurodevelopmental disorder (NDD) characterized by intellectual disability (ID), developmental delay (DD), and epilepsy predominantly, is caused by a heterozygous mutation in the SYNGAP1 gene. …”
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    Phenotype and genotype analyses of Chinese patients with autosomal dominant mental retardation type 5 caused by SYNGAP1 gene mutations
  6. 11146
    “…Among the best-known genetic risk factors for ASD, there are mutations causing the loss of the Fragile X Messenger Ribonucleoprotein 1 (FMRP) leading to Fragile X syndrome (FXS), a common form of inherited intellectual disability and the leading monogenic cause of ASD. …”
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    FMR1 deletion in rats induces hyperactivity with no changes in striatal dopamine transporter availability
  7. 11147
    “…Trp328*) in ATP9A (NM_006045.3) cause autosomal recessive hypotonia, intellectual disability (ID) and attention deficit hyperactivity disorder (ADHD). …”
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    ATP9A deficiency causes ADHD and aberrant endosomal recycling via modulating RAB5 and RAB11 activity
  8. 11148
    por Niazi, Sarfaraz K.
    Publicado 2022
    “…WHAT IS NEW AND THE CONCLUSION: The entry of generics and biosimilars will now be encouraged by brand‐name product companies, reducing the intellectual property hurdles like the “patent dance” for biosimilars. …”
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    The Inflation Reduction Act: A boon for the generic and biosimilar industry
  9. 11149
    “…Nationalism has trumped solidarity, resulting in unnecessary loss of life and inequitable access to vaccines and therapeutics. Existing intellectual property (IP) regimens, trade secrets and data rights, under which pharmaceutical firms operate, have also posed obstacles to increasing manufacturing capacity, and ensuring adequate supply, affordable pricing, and equitable access to COVID-19 vaccines and other health products in low-income and middle- income countries. …”
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    Pandemic preparedness and response: beyond the Access to COVID-19 Tools Accelerator
  10. 11150
    “…These sites were screened through Geno2MP medical phenotypes, revealing novel SOX15 R104G associated with musculature abnormality and SOX8 R159G with intellectual disability. Within gnomAD, SOX18 E137K (rs201931544), found within the HMG box of ~0.8% of Latinx individuals, is associated with seizures and neurological complications, potentially through blood–brain barrier alterations. …”
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    Evolutionary Landscape of SOX Genes to Inform Genotype-to-Phenotype Relationships
  11. 11151
    “…Early detection of AITD is crucial to optimize glycemic control, growth, and intellectual development. In this prospective cohort study, we sought to characterize the prevalence, incident ages and risk factors of AITD in children and adolescents with T1D. …”
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    Graves disease is more prevalent than Hashimoto disease in children and adolescents with type 1 diabetes
  12. 11152
    “…Percentages of time spent in intellectual activity, playful screen activity, and overall sedentary time were greater in the older age groups, whereas percentages of time spent in play (with and without PA) and in overall PA were greater in the younger groups. …”
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    Children’s Physical Activity During the COVID-19 Lockdown: A Cross Cultural Comparison Between Portugal, Brazil and Italy
  13. 11153
    “…We compared our case and previously 2 cases reported with recurrent variation, the overlapping clinical features are global developmental delay or intellectual disability, language delay and scoliosis, but their other clinical characteristics are different. …”
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    Clinical characterization of Lamb-Shaffer syndrome: a case report and literature review
  14. 11154
    por Habermann-Horstmeier, Lotte
    Publicado 2023
    “…Many people with intellectual and developmental disabilities (IDD) were much more affected by COVID-19 than the average population. …”
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    Die Situation von Menschen mit geistiger Behinderung in der COVID-19-Pandemie – Risikofaktoren, Problembereiche, Maßnahmen
  15. 11155
    “…All Down syndrome individuals showed both olfactory deficit and intellectual disability. Down syndrome individuals and euploid controls exhibited clear expression differences in genes located in and outside the chromosome 21. …”
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    RNAseq analysis of olfactory neuroepithelium cytological samples in individuals with Down syndrome compared to euploid controls: a pilot study
  16. 11156
    “…BACKGROUND: KDM5 family proteins are multi-domain regulators of transcription that when dysregulated contribute to cancer and intellectual disability. KDM5 proteins can regulate transcription through their histone demethylase activity in addition to demethylase-independent gene regulatory functions that remain less characterized. …”
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    Proximity labeling reveals a new in vivo network of interactors for the histone demethylase KDM5
  17. 11157
    “…BACKGROUND: Congenital hypothyroidism (CH) is the leading cause of preventable physical and intellectual disabilities. This study aimed to assess the incidence and clinical characteristics of CH in newborns. …”
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    Incidence of congenital hypothyroidism by gestational age: a retrospective observational study
  18. 11158
    “…Mutations or alterations (such as abnormal expression, degradation, post-translational modification, etc.) that impair the function or expression of proteins associated with the NMD pathway can be deleterious to cells and may cause pathological consequences, as implicated in developmental and intellectual disabilities, genetic defects, and cancer. …”
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    Nonsense-Mediated mRNA Decay as a Mediator of Tumorigenesis
  19. 11159
    “…In the light of Scientific/Intellectual Movement theory (Frickel and Gross 2005), we wonder how interdisciplinarity could and should be mobilized to further advance the development of the field of DTR. …”
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    Conception and Interpretation of Interdisciplinarity in Research Practice: Findings from Group Discussions in the Emerging Field of Digital Transformation
  20. 11160
    “…However, no research has systematically analyzed the intellectual landscape and emerging trends for tumor ablation and immunity using scientometric analysis. …”
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    Knowledge mapping of image-guided tumor ablation and immunity: A bibliometric analysis
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