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  1. 10001
    “…AUTS2 was originally discovered as the gene disrupted by a translocation in human twins with Autism spectrum disorder, intellectual disability, and epilepsy. Since that initial finding, AUTS2-linked mutations and variants have been associated with a very broad array of neuropsychiatric disorders, sugg esting that AUTS2 is required for fundamental steps of neurodevelopment. …”
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    A Mouse Mutation That Dysregulates Neighboring Galnt17 and Auts2 Genes Is Associated with Phenotypes Related to the Human AUTS2 Syndrome
  2. 10002
    “…Autosomal recessive mutations in KIAA1279 cause a rare neurological disorder, Goldberg-Shprintzen syndrome (GOSHS), characterized by microcephaly, polymicrogyria, intellectual disability, axonal neuropathy, thin corpus callosum and peripheral neuropathy. …”
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    Multiple Functions of KBP in Neural Development Underlie Brain Anomalies in Goldberg-Shprintzen Syndrome
  3. 10003
    “…Additionally, a point-mutation in Trm7, which is observed in FTSJ1 (human Trm7 ortholog) of nosyndromic X-linked intellectual disability patients, decreases the methylation activity.…”
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    Structure of tRNA methyltransferase complex of Trm7 and Trm734 reveals a novel binding interface for tRNA recognition
  4. 10004
    “…Combining with previously published Chinese KS cases, the patients presented with five cardinal manifestations including facial dysmorphism, intellectual disability, growth retardation, fingertip pads and skeletal abnormalities. …”
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    Kabuki syndrome: novel pathogenic variants, new phenotypes and review of literature
  5. 10005
    “…Moreover, a correlation was identified when comparing the levels of isoform I mRNA and the severity of NF1 features, with statistically significant lower levels associated with a severe phenotype (i.e., occurrence of learning disability/intellectual disability, optic gliomas and/or other neoplasias, and/or cerebrovascular disease) as well as in patients with cognitive impairment. …”
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    Isoform-specific NF1 mRNA levels correlate with disease severity in Neurofibromatosis type 1
  6. 10006
    “…It seems that important contributing factors are comorbidity and especially overall lower cognitive function (intellectual disability), but further research is needed as well as enhanced adult-oriented research and intervention programs.…”
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    The long-term outcomes of a cohort of adolescents and adults from Greece with autism spectrum disorder
  7. 10007
    “…Down's syndrome is a chromosomal disorder that invariably results in both intellectual disability and Alzheimer's disease neuropathology. …”
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    Differential effects of Down's syndrome and Alzheimer's neuropathology on default mode connectivity
  8. 10008
    “…CASE PRESENTATION: We hereby report on a young child followed-up for three years who presents with a spectrum of clinical manifestations such as congenital microcephaly, dysmorphic features, severe intellectual disability, and drug-resistant epileptic encephalopathy in association with a synonymous variant in PRRT2 gene (c.501C > T; p.Thr167Ile) of unknown clinical significance variant (VUS) revealed by diagnostic exome sequencing. …”
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    PRRT2 gene variant in a child with dysmorphic features, congenital microcephaly, and severe epileptic seizures: genotype-phenotype correlation?
  9. 10009
    “…RESULTS: We identified a novel frameshift variant of EFTUD2 (c.1030_1031delTG, p.Trp344fs*2) in an MFDM Chinese patient with craniofacial dysmorphism including ear canal structures and microcephaly, mild intellectual disability, and developmental delay. We generated a zebrafish model of eftud2 deficiency, and a consistent phenotype consisting of mandibular bone dysplasia and otolith loss was observed. …”
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    EFTUD2 gene deficiency disrupts osteoblast maturation and inhibits chondrocyte differentiation via activation of the p53 signaling pathway
  10. 10010
    “…We examined imaging markers of amyloid and brain health (white matter microstructural integrity and cortical thinning), systemic vascular health preceding the imaging markers, and early to midlife intellectual enrichment to predict longitudinal cognitive trajectories. …”
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    Amyloid, Vascular, and Resilience Pathways Associated with Cognitive Aging
  11. 10011
    “…BACKGROUND: Rubinstein–Taybi syndrome (RSTS) is a rare genetic disease characterized by broad thumbs and halluces, facial dysmorphisms, short stature, and intellectual disability. RSTS is mainly caused by de novo variants in epigenetics‐associated gene, CREBBP. …”
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    Clinical exome sequencing identifies novel CREBBP variants in 18 Chinese Rubinstein–Taybi Syndrome kids with high frequency of polydactyly
  12. 10012
    “…These steps are a typical intellectual ability of gifted learners and researchers that combine previously seemingly unrelated areas to each other and drive innovation.…”
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    Case-based blended eLearning scenarios—adequate for competence development or more?
  13. 10013
    por Oyibo, Samson O
    Publicado 2019
    “…Introduction Writing a case report increases one’s knowledge about a particular disease condition, demonstrates intellectual curiosity and commitment to scientific inquiry and the ability to follow through on scholarly projects. …”
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    Developing a Beginner’s Guide to Writing a Clinical Case Report: A Pilot Evaluation by Junior Doctors
  14. 10014
    “…The WHO Eastern Mediterranean Region is endowed with deep intellectual tradition, interesting cultural diversity, and a strong societal fabric; components of a vibrant platform for promoting health and wellbeing. …”
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    Health for all by all-pursuing multi-sectoral action on health for SDGs in the WHO Eastern Mediterranean Region
  15. 10015
    “…RESULTS: The algorithm was applied to 191 CNV data sets obtained from children with brain disorders (intellectual disability and autism spectrum disorders) by SNP array molecular karyotyping. …”
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    Laundering CNV data for candidate process prioritization in brain disorders
  16. 10016
    “…The data were analyzed by drug-mix, sources of funding, growth, and intellectual property status. The Laspeyres Price Index was used to analyze expenditure growth. …”
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    Expanding Coverage of Oncology Drugs in an Aging, Upper-Middle-Income Country: Analyses of Public and Private Expenditures in Chile
  17. 10017
    “…OBJECTIVE: Heterozygous SHANK3 mutations or partial deletions of the long arm of chromosome 22, also known as Phelan–McDermid syndrome, result in a syndromic form of the autism spectrum as well as in global developmental delay, intellectual disability, and several neuropsychiatric comorbidities. …”
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    Severe white matter damage in SHANK3 deficiency: a human and translational study
  18. 10018
    “…In male probands, we observed increase in platelet 5-HT content in association with increase in the score for adaptive responses and increase in platelet 5-HIAA levels with concomitant decline in the score for intellectual response. Age did not influence the neurochemical parameters, but imitation, listening responses and nonverbal communication scores decreased with age. …”
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    Gender-Specific Effect of 5-HT and 5-HIAA on Threshold Level of Behavioral Symptoms and Sex-Bias in Prevalence of Autism Spectrum Disorder
  19. 10019
    “…People with autism (aOR, 0.468), renal failure (aOR, 0.498), brain injury (aOR, 0.581), ostomy (aOR, 0.602), and intellectual disability (aOR, 0.610) showed the lowest participation rates. …”
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    Disparities in the Participation Rate of Colorectal Cancer Screening by Fecal Occult Blood Test among People with Disabilities: A National Database Study in South Korea
  20. 10020
    “…In a 4‐year follow‐up study, we examined longitudinal stability and change of SIS in children and adolescents with ASD and a normal intellectual ability (n = 55; mean age Time 1: 13 years; mean age Time 2: 17 years). …”
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    Stability and change in social interaction style of children with autism spectrum disorder: A 4‐year follow‐up study
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