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  1. 11541
    “…Most individuals with PMS have moderate to profound intellectual disability (ID), while those with NRXN1ds have no ID to severe ID. …”
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    The Synaptic Gene Study: Design and Methodology to Identify Neurocognitive Markers in Phelan-McDermid Syndrome and NRXN1 Deletions
  2. 11542
    “…Predictive performances of reduced feature models were explored and compared between females and males without intellectual disabilities. RESULTS: Reduced feature models relied on considerably fewer features from the ADOS in females compared to males, while still yielding similar classification performance (e.g., sensitivity, specificity). …”
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    Phenotypic differences between female and male individuals with suspicion of autism spectrum disorder
  3. 11543
    “…CONCLUSION: It may be beneficial to promote qualitative aspects of walking practice and strive for regularity rather than intensity of walking to accrue the social, psychological and intellectual benefits reported by individuals in the retirement life change. …”
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    A qualitative exploration of attitudes to walking in the retirement life change
  4. 11544
    “…RESULTS: Abnormalities of the nervous system (54.5%), including intellectual disability, head and neck (19%), skeletal system (16%), ear (15%) and eye (15%) were the most common clinical features reported in referrals. …”
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    Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders
  5. 11545
    “…Participants were 68 adults: 37 with neurosurgically-naïve, unilateral temporal lobe epilepsy (51% right lateralized) and 31 healthy controls of similar age, sex and intellectual ability to the participants with epilepsy. …”
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    Compromised future thinking: another cognitive cost of temporal lobe epilepsy
  6. 11546
    “…FUNDING: Brittle Bone Disorders Consortium (U54AR068069), Clinical Translational Core of Baylor College of Medicine Intellectual and Developmental Disabilities Research Center (P50HD103555) from National Institute of Child Health and Human Development, USDA/ARS (cooperative agreement 58-6250-6-001), and Sanofi Genzyme.…”
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    Targeting TGF-β for treatment of osteogenesis imperfecta
  7. 11547
    por Bakkelund, Daniel
    Publicado 2022
    “…The type of industry data we present is usually company confidential, bound by intellectual property rights, and generally not available to scientists. …”
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    Machine part data with part-of relations and part dissimilarities for planted partition generation
  8. 11548
    “…SAMPLE: Studies focused on adults with the following capacity-affecting conditions: acquired brain injury; aphasia after stroke; autism; dementia; intellectual disabilities; mental health conditions. …”
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    How are adults with capacity-affecting conditions and associated communication difficulties included in ethically sound research? A documentary-based survey of ethical review and recruitment processes under the research provisions of the Mental Capacity Act (2005) for England and Wales
  9. 11549
    “…Our findings emphasized that intellectual and emotional cares are essential for LBC.…”
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    Altered Spontaneous Brain Activity in Left-Behind Children: A Resting-State Functional MRI Study
  10. 11550
    “…These IHIs are more prevalent in tropics and subtropical countries especially in developing countries like sub-Saharan Africa responsible for morbidity, mortality, and physical as well as intellectual growth retardation in children. In Ethiopia, the burden of IHIs appears in all ages mainly due to factors like lack of education, low socio-economic status, and inadequate supply of drugs and proper awareness. …”
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    Cross-Sectional Study on Assessment of Frequency of Intestinal Helminth Infections and Its Related Risk Factors among School Children from Adola Town, Ethiopia
  11. 11551
    “…It has been characterized by variable sized duplications that lead to a range of phenotypes including growth retardation, developmental delay/intellectual disability, and distinctive craniofacial abnormalities. …”
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    Molecular cytogenetic characterization of partial trisomy of the long arm of chromosome 11 in a patient with multiple congenital anomalies
  12. 11552
    “…They completed a neuropsychological test battery assessing premorbid intellectual functioning, attention, processing speed, language, visuospatial skills, memory, and aspects of executive functioning. …”
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    Examining for Cavum Septum Pellucidum and Ventricular Enlargement in Retired Elite-Level Rugby League Players
  13. 11553
    “…Mutations in the SCN8A gene encoding the voltage-gated sodium channel α-subunit Nav1. 6 have been reported in individuals with epilepsy, intellectual disability and features of autism spectrum disorder. …”
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    Social Deficits and Cerebellar Degeneration in Purkinje Cell Scn8a Knockout Mice
  14. 11554
    “…RESULTS: Five patients had mainly clinical presentations including unsteady gait, dysarthria, bulbar conjunctive telangiectasia, cerebellar atrophy, intellectual disability, stunted growth, increase of alpha-fetoprotein in serum, lymphopenia. …”
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    Analysis of Clinical and Genetic Characterization of Three Ataxia–Telangiectasia Pedigrees With Novel ATM Gene Mutations
  15. 11555
    “…Copy number variants indicating loss of function in the DLG2 gene have been associated with markedly increased risk for schizophrenia, autism spectrum disorder, and intellectual disability. DLG2 encodes the postsynaptic scaffolding protein DLG2 (PSD93) that interacts with NMDA receptors, potassium channels, and cytoskeletal regulators but the net impact of these interactions on synaptic plasticity, likely underpinning cognitive impairments associated with these conditions, remains unclear. …”
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    Reduced expression of the psychiatric risk gene DLG2 (PSD93) impairs hippocampal synaptic integration and plasticity
  16. 11556
    “…The clinical phenotypes of these patients include intellectual disability, developmental delay, seizures, microcephaly, growth impairment, and/or facial dysmorphisms. …”
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    Post-translational formation of hypusine in eIF5A: implications in human neurodevelopment
  17. 11557
    “…They all displayed favorable outcomes without intellectual or developmental abnormalities, although afebrile seizures or frequent seizures occurred. …”
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    ATP6V0C Is Associated With Febrile Seizures and Epilepsy With Febrile Seizures Plus
  18. 11558
    “…Aromatic amino acid decarboxylase (AADC) deficiency is a rare monogenic disease, often fatal in the first decade, causing severe intellectual disability, movement disorders and autonomic dysfunction. …”
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    The novel P330L pathogenic variant of aromatic amino acid decarboxylase maps on the catalytic flexible loop underlying its crucial role
  19. 11559
    por Sun, Xiaoyun, Cheng, Linxi, Sun, Yuhua
    Publicado 2022
    “…BACKGROUND: The POGZ gene has been found frequently mutated in neurodevelopmental disorders (NDDs), particularly autism spectrum disorder (ASD) and intellectual disability (ID). However, little is known about its roles in embryonic stem cells (ESCs), neural development and diseases. …”
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    Autism-associated protein POGZ controls ESCs and ESC neural induction by association with esBAF
  20. 11560
    “…FXS is a neurodevelopmental disability characterized by intellectual impairment, seizures, autistic behavior, anxiety, and obesity. …”
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    Effects of Soy-Based Infant Formula on Obesity and Neurodevelopment in an Autism Mouse Model
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