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  1. 11741
    “…All individuals studied had intellectual disability, and autism spectrum disorder was prevalent (73%). …”
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    Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations
  2. 11742
    “…CASE PRESENTATION: This study presents a unique case of a 12-year-old female with mos 46,XY, (r)9[31]/45,XY,-9[9] karyotype, presenting with intellectual disability and short stature, mimicking Turner syndrome. …”
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    Loss of DMRT1 gene in a Mos 45,XY,-9[8]/46,XY,r(9)[29]/47,XY,+idic r(9)× 2[1]/46,XY,idic r(9)[1]/46,XY[1] female presenting with short stature
  3. 11743
    “…The clinical manifestation of the condition ranges from mild to severe, resulting in intellectual disability and behavioural disturbance. …”
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    Chinese cases of early infantile epileptic encephalopathy: a novel mutation in the PCDH19 gene was proved in a mosaic male- case report
  4. 11744
    “…The syndrome is rare (1 in 30,000 individuals) and is associated with mild to moderate intellectual disability, increased risk for autism and anxiety, and a 40-fold increased risk for schizophrenia, along with a host of physical manifestations. …”
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    Study protocol for The Emory 3q29 Project: evaluation of neurodevelopmental, psychiatric, and medical symptoms in 3q29 deletion syndrome
  5. 11745
    “…Previous studies found miR-146a upregulation is the most common miRNA deregulation event in neurodevelopmental disorders such as autism spectrum disorder (ASD), epilepsy, and intellectual disability (ID). Yet, how miR-146a upregulation affects the developing fetal brain remains unclear. …”
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    Role of miR-146a in neural stem cell differentiation and neural lineage determination: relevance for neurodevelopmental disorders
  6. 11746
    “…CASE PRESENTATION: In Case 1, a 25-year-old man presented with a 14-year history of intellectual disability, clumsiness, spastic ataxia, dysphagia, and frequent falls. …”
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    Phenotypic variability of Niemann-Pick disease type C including a case with clinically pure schizophrenia: a case report
  7. 11747
    “…It has a highly variable, incompletely penetrant phenotype that can include intellectual disability, global developmental delay, specific learning disabilities, autism, schizophrenia, heart anomalies and dysmorphic features. …”
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    1q21.1 microduplication: large verbal–nonverbal performance discrepancy and ddPCR assays of HYDIN/HYDIN2 copy number
  8. 11748
    “…Recruitment into this study has also supported the feasibility of large-scale biological sample collection in children diagnosed with ASD with comprehensive phenotyping across a wide range of ages, intellectual abilities, and levels of adaptive functioning. …”
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    Study protocol for the Australian autism biobank: an international resource to advance autism discovery research
  9. 11749
    “…Variants of the SH3 and multiple ankyrin repeat domain 3 (SHANK3) gene, encoding excitatory postsynaptic core scaffolding proteins, are causally associated with numerous neurodevelopmental and neuropsychiatric disorders, including autism spectrum disorder (ASD), bipolar disorder, intellectual disability, and schizophrenia (SCZ). Although detailed synaptic changes of various Shank3 mutant mice have been well characterized, broader downstream molecular changes, including direct and indirect changes, remain largely unknown. …”
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    Integrative Brain Transcriptome Analysis Reveals Region-Specific and Broad Molecular Changes in Shank3-Overexpressing Mice
  10. 11750
    “…Participants completed an end-of-rotation Perceived Wellness Survey (PWS), which provided information on six domains of personal wellness (psychological, emotional, social, physical, spiritual, and intellectual). PWS levels were compared between groups of subjects with higher or lower levels of activity and sleep (i.e., above and below the median subject-averaged values) using the Mann-Whitney U test. …”
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    Sleep and Exercise in Emergency Medicine Residents: An Observational Pilot Study Exploring the Utility of Wearable Activity Monitors for Monitoring Wellness
  11. 11751
    “…BACKGROUND: Inadequate nutrient consumption causes protein energy malnutrition and micronutrient deficiencies and related consequences, including poor physical growth and intellectual development. However, literatures showing quantitative measurement of dietary intake of children are limited in Ethiopia. …”
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    Nutrient consumption and associated factors among school age children in Dewa Chefe District, northeast Ethiopia: a cross-sectional study
  12. 11752
    “…BACKGROUND: It is well documented that mothers of children with intellectual disabilities or autism experience elevated stress, with mental health compromised. …”
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    Using Bayesian methodology to explore the profile of mental health and well-being in 646 mothers of children with 13 rare genetic syndromes in relation to mothers of children with autism
  13. 11753
    “…These results also provide preliminary evidence of greater disruptions in fronto-subcortical FC among girls with ADHD that is not due to elevated inattention symptom severity, intellectual reasoning ability, age, or head motion. …”
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    ADHD-related sex differences in fronto-subcortical intrinsic functional connectivity and associations with delay discounting
  14. 11754
    “…Fifty-five of 57 patients had intellectual disability, which was moderate to severe in 50. …”
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    SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy
  15. 11755
    “…Deletion and duplication of 16p11.2 (BP4–BP5) have been associated with an increased risk of intellectual disability and psychiatric disorder. This is the first study to compare the frequency of a broad spectrum of psychiatric disorders in children with 16p11.2 deletion and duplication. …”
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    Psychiatric disorders in children with 16p11.2 deletion and duplication
  16. 11756
    “…Germinoma is a radiosensitive tumor whose diagnosis depends on imaging, tumor marker detection, surgical biopsy and cerebrospinal fluid cytology. 16p11.2 microdeletion syndrome is phenotypically characterized by developmental delay, intellectual disability and autism spectrum disorders. …”
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    Bifocal germinoma in a patient with 16p11.2 microdeletion syndrome
  17. 11757
    “…All patients had “epilepsy plus,” defined as epilepsy with comorbid features, including intellectual disability, psychiatric symptoms, and other neurological and nonneurological features. …”
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    Diagnostic implications of genetic copy number variation in epilepsy plus
  18. 11758
    “…Supervisors reported a range of benefits to their own professional and personal development from supervising students, which included improved teaching and mentoring skills, providing intellectual challenge, and helping with the completion of audits and service improvement projects. …”
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    What difference can a year make? Findings from a survey exploring student, alumni and supervisor experiences of an intercalated degree in emergency care
  19. 11759
    “…By searching the website of State Intellectual Property Office of the People’s Republic of China (http://www.sipo.gov.cn), 2,500 antihyperglycemic patents for T2DM were identified and analyzed. …”
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    Analysis of Patents Issued in China for Antihyperglycemic Therapies for Type 2 Diabetes Mellitus
  20. 11760
    “…Individuals with autism spectrum disorder, intellectual disability, attention-deficit/hyperactivity disorder, schizophrenia, or bipolar affective disorder diagnoses were excluded. …”
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    Association of Rare Copy Number Variants With Risk of Depression
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