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1801
Epigene functional diversity: isoform usage, disordered domain content, and variable binding partners
Published 2025-02-01“…Additionally, we assessed the specificity of their expression profiles and showed epigenes are more ubiquitously expressed consistent with their enrichment in pediatric syndromes with intellectual disability, multiorgan dysfunction, and developmental delay. …”
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1802
Heterozygous CDKL5 Knockout Female Mice Are a Valuable Animal Model for CDKL5 Disorder
Published 2018-01-01“…CDKL5 disorder primarily affects girls and is characterized by early-onset epileptic seizures, gross motor impairment, intellectual disability, and autistic features. Although all CDKL5 female patients are heterozygous, the most valid disease-related model, the heterozygous female Cdkl5 knockout (Cdkl5 +/−) mouse, has been little characterized. …”
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1803
Prioritization of potato genes involved in the formation of agronomically valuable traits using the SOLANUM TUBEROSUM knowledge base
Published 2019-05-01“…The effective use of knowledge presented in such a number of non-formalized documents in natural language requires the use of modern intellectual methods of analysis. However, in the literature, there is no evidence of a widespread use of intelligent methods for automatically extracting knowledge from scientific publications on cultures such as potatoes. …”
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1804
Syngap1 promotes cognitive function through regulation of cortical sensorimotor dynamics
Published 2025-01-01“…Here, we demonstrate in mice that expression of the autism/intellectual disability gene, Syngap1, in cortical excitatory neurons is required for the formation of somatomotor networks that promote SMI-mediated perception. …”
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1805
Causes of Pupils' Failures At Primary Leaving Examinations in Butanda Sub-County Kabale District.
Published 2024“…Parents should show an active interest in their children's education by providing them with rich instructional materials and also make the home environment conducive to learning by ensuring homework habits, parental support and guidance, and intellectual stimulation.…”
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1806
Constructing Identities: Amos Tutuola and the Ibadan Literary Elite in the wake of Nigerian Independence
Published 2021-12-01“…Accordingly, the historical record has less to say about his intellectual ruminations than about those of his elite contemporaries. …”
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1807
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1808
Pre-service teachers' perceptions of physical, socioemotional and cognitive traits in gifted students: unveiling bias?
Published 2025-01-01“…This study examines Spanish pre-service teachers' stereotypical conceptions of gifted and non-gifted students focusing on physical appearance and athletic ability.MethodsFollowing a mixed methods research with between subjects design and using a convenience sampling, 455 last-year pre-service teachers enrolled during 2023–2024 in one of three university degrees or one Master's degree related to teacher training at University of Murcia were randomly assigned a vignette in order to rate the intellectual ability, motivation, prosociality, and physical characteristics of a fictitious 12-year-old student whose ability level (gifted/non-gifted) and gender (girl/boy), varied. …”
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1809
Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1
Published 2015-01-01“…We describe two brothers who presented at birth with bone growth abnormalities, followed by development of increasingly severe intellectual and physical disability, growth restriction, epilepsy, and cerebellar and brain stem atrophy, but normal ocular phenotypes. …”
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1810
Factors influencing choice of residency program among medical intern doctors and medical students: a cross-sectional survey
Published 2025-01-01“…Conclusion Internal medicine emerged as a popular specialty among Omani medical students and interns, driven by intellectual stimulation, job security, and work-life balance. …”
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1811
Le sensorium synthétique : réflexion sur l’utilisation de l’expographie immersive numérique et muséale
Published 2014-09-01“…For a long time, the museum exhibition has been understood as an intellectual process that is analogous to an illustrated text. …”
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1812
Sleep profile in patients with septo-optic-pituitary dysplasia: protocol for a prospective cohort study
Published 2025-01-01“…Introduction Children with septo-optic-pituitary dysplasia (SOD) may experience a range of visual impairments and hormonal dysfunctions beyond developmental delay/intellectual disability. The literature describes sleep fragmentation, circadian rhythm disruptions and reduced sleep efficiency. …”
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1813
Own Experience in the Use of Artificial Intelligence Technologies in the Diagnosis of Esophageal Achalasia
Published 2024-12-01“…The Federal Service for Intellectual Property (Rospatent) issued a certificate of state registration of the computer program No. 2024665795 dated July 5, 2024. …”
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1814
Development of cohort definitions and algorithms to identify patients with Lennox-Gastaut syndrome or Dravet syndrome from real-world administrative healthcare databases
Published 2025-02-01“…Multiple seizure types, developmental delay, and intellectual disabilities were considered by the physicians to be key diagnostic features. …”
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1815
Regional hippocampal thinning and gyrification abnormalities and associated cognition in children with prenatal alcohol exposure
Published 2025-02-01“…The data also demonstrate that these developmental anomalies have functional consequences in terms of core memory functions as well as global intellectual functioning in children with PAE.…”
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1816
Choosing a starting professional trajectory: job-education mismatch effect
Published 2024-10-01“…This engagement increases interest in the cultivation and early recruitment of proactive students for the development of high-tech industries and intellectual services.…”
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1817
Inventory and Conservation of Triassic Vertebrate Tracks in the Monts d’Ardèche UNESCO Global Geopark, France
Published 2021-09-01“…This success was made possible by the intellectual, logistic and social involvement of local people throughout, by acknowledgement of these contributions, and by the capacity of all actors to collaborate efficiently with each other. …”
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1818
Fortified Iodine Milk Improves Iodine Status and Cognitive Abilities in Schoolchildren Aged 7–9 Years Living in a Rural Mountainous Area of Morocco
Published 2016-01-01“…Our study aims to assess the impact of ID on the intellectual development of Moroccan schoolchildren and to evaluate the effect of consumption of fortified milk on reducing ID. …”
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1819
Academic burnout of digital natives and social sustainability: prevalence and risk factors
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1820
Genotypic Spectrum in a Cohort of Sri Lankan Patients With Homocystinuria
Published 2025-01-01“…Among the 14 patients, the common clinical features were ectopia lentis (100%), intellectual disability (92%) and marfanoid features (78%) at presentation while three of them had developed osteoporosis (21%). …”
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