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  1. 10981
    “…Both manifest as a constellation of features like craniofacial dysmorphism, hypotonia, intellectual impairment and global developmental delay. …”
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    Goyal-Naqvi Syndrome (Concurrent Trisomy 10p and Terminal 14q Deletion): A Review of the Literature
  2. 10982
    “…Here, we did not find any wormian bones, and there are several typical clinical characteristics: (1) macrocephaly and wide jaw, (2) Avatar elf-shaped ears, pointed and protruding ears, (3) hypertrophy of limbs, (4) flat feet and giant hand phenomenon, (5) nail dystrophy, (6) limb deformity, (7) high-arched palate, (8) superficial hemangiomas, (9) tall stature, and intellectual disability. In this patient, we found biallelic frameshift deletion mutations in WRAP53, and those two mutations were transmitted from her parents respectively. …”
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    Diaphyseal and Metaphyseal Modeling Defects—Clinical Findings and Identification of WRAP53 Deficiency in Craniometadiaphyseal Dysplasia
  3. 10983
    “…Methods: We studied four patients from two unrelated consanguineous Sudanese families who manifested a neurological phenotype characterized by spasticity, psychomotor developmental delay and/or regression, and intellectual impairment. We applied next-generation sequencing, bioinformatics analysis, and Sanger sequencing to identify the genetic culprit. …”
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    Pathogenic Variants in ABHD16A Cause a Novel Psychomotor Developmental Disorder With Spastic Paraplegia
  4. 10984
    “…Methods: We compared the social cognition abilities of 45 adults with Autism Spectrum Disorder without intellectual disability and 45 neurotypically developed volunteers using the “ClaCoS” battery, in order to determine its relevance in the evaluation of social cognition impairments in autism. …”
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    When Alterations in Social Cognition Meet Subjective Complaints in Autism Spectrum Disorder: Evaluation With the “ClaCoS” Battery
  5. 10985
    “…It is frequently associated with comorbidities, such as attention-deficit hyperactivity disorder, altered sensory sensitivity, and intellectual disability. A de novo nonsense mutation in EPHB2 (Q857X) was discovered in a female patient with ASD [13], revealing EPHB2 as a candidate ASD risk gene. …”
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    Sex-dependent role for EPHB2 in brain development and autism-associated behavior
  6. 10986
    “…Cardio-facio-cutaneous syndrome 3 (CFC3) due to variants in MAP2K1 is a rare genetic disorder manifested mainly by short stature, facial dysmorphism, abnormalities of the cardiovascular system, skin changes, and intellectual disability. The aim of the study is the evaluation of the occurrence of pathological changes in the upper respiratory tract, orthodontic disorders, as well as voice, speech and hearing abnormalities in an 11-year-old boy with CFC3 syndrome. …”
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    Phoniatric, Audiological, Orodental and Speech Problems in a Boy with Cardio-Facio-Cutaneous Syndrome Type 3 (CFC 3) Due to a Pathogenic Variant in MAP2K1 – Case Study
  7. 10987
    “…Methods: Adults with CP (>40 years) without intellectual disability were recruited from medical records of a large rehabilitation center to participate in a qualitative study using the photovoice method. …”
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    Aging With Cerebral Palsy: A Photovoice Study Into Citizenship
  8. 10988
    “…According to Sloterdijk, in favorable cases a synthesis of man and technology can result in a significant improvement of human capabilities in the sense of “enhancement”, i.e. an increase, an improvement or even an expansion of intellectual, physical or psychological possibilities, as it were in a transgression of the human (so-called transhumanism). …”
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    175 Jahre Anästhesie und Narkose – Auf dem Weg zu einem „Menschenrecht auf Ohnmacht“
  9. 10989
    “…We link downregulated genes to neurological disorders including the new HNRNPH1-related intellectual disability syndrome with clinical overlap to RSTS. …”
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    Genes for RNA-binding proteins involved in neural-specific functions and diseases are downregulated in Rubinstein-Taybi iNeurons
  10. 10990
    “…The neuropsychological evaluation will include that of non-verbal intellectual efficiency (Raven's colored progressive matrices), verbal level (WISC-IV subtests), and executive functions (NEPSY II subtests and the opposite worlds of TEA-CH). …”
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    Impact of Executive Functions and Parental Anxiety on the Development of Social Cognition in Premature Children: A Cross-Sectional Case-Control Protocol
  11. 10991
    “…OBJECTIVE: To identify and summarize clinical practice guidelines for autism spectrum disorder (ASD) and intellectual disability (ID) for the Package of Interventions for Rehabilitation for the World Health Organization (WHO). …”
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    Systematic Review: Recommendations for Rehabilitation in ASD and ID From Clinical Practice Guidelines
  12. 10992
    “…Background and Objectives: Chromosomal microarray (CMA) is a first-tier genetic test for children with developmental delay (DD), intellectual disability (ID), autism spectrum disorders (ASDs), and multiple congenital anomalies (MCA). …”
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    Chromosomal Microarray in Children With Developmental Delay: The Experience of a Tertiary Center in Korea
  13. 10993
    “…Occasionally more complex phenotypes with delayed milestones, severe hypotonia, intellectual disability, dystonic postures, pyramidal signs, and neuroimaging abnormalities have been reported. …”
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    Infantile-Onset Charcot–Marie–Tooth Disease With Pyramidal Features and White Matter Abnormalities Due to a De novo MORC2 Gene Variant: A Case Report and Brief Review of the Literature
  14. 10994
    “…The patient developed sensorineural hearing loss at age 6 years; his intellectual functioning was impaired. Recombinant Human Growth Hormine (rhGH) treatment was postponed until the age of 6.9 years due to a strong family history of diabetes. …”
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    Case Report: Homozygous DNAJC3 Mutation Causes Monogenic Diabetes Mellitus Associated With Pancreatic Atrophy
  15. 10995
    “…BACKGROUND: Down syndrome (DS) is the most common genetic cause of intellectual disability (ID) worldwide. Understanding electrophysiological characteristics associated with DS provides potential mechanistic insights into ID, helping inform biomarkers and targets for intervention. …”
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    Comparison of resting-state EEG between adults with Down syndrome and typically developing controls
  16. 10996
    “…Fragile X Syndrome (FXS) is a leading genetic cause of intellectual disability and ASD behaviors. As in most children with ASD, atypical sensory processing is a common symptom in FXS, frequently manifesting as sensory hypersensitivity. …”
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    Neural Correlates of Auditory Hypersensitivity in Fragile X Syndrome
  17. 10997
    “…A set of de novo point mutations in GNAO1 and GNAI1, the genes encoding the α-subunits (Gαo and Gαi1, respectively) of the heterotrimeric G proteins, have been described to cause pediatric encephalopathies represented by epileptic seizures, movement disorders, developmental delay, intellectual disability, and signs of neurodegeneration. …”
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    Pediatric Encephalopathy: Clinical, Biochemical and Cellular Insights into the Role of Gln52 of GNAO1 and GNAI1 for the Dominant Disease
  18. 10998
    “…INTRODUCTION: Schools play a significant role in children’s social, emotional and intellectual well-being. For children with medical complexity (CMC) and chronic disease diagnoses (CDD), an absence from school due to prolonged hospitalisation places them at risk for greater social exclusion and poorer academic outcomes than their healthy counterparts. …”
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    School reintegration following hospitalisation for children with medical complexity and chronic disease diagnoses: a scoping review protocol
  19. 10999
    “…Methods  We report the first Indian case with SCA-35 in a 16-year-old-boy with atypical age of onset at 9 years, prominent extrapyramidal features, intellectual disability, and a novel missense mutation in the TGM6 gene. …”
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    Clinical Spectrum of TGM6-Related Movement Disorders: A New Report with a Pooled Analysis of 48 Patients
  20. 11000
    “…There is also a growing number of cases of patients after recovery from COVID-19 with psychosomatic disorders, manifesting with memory disfunction, cognitive functions disorders, depression or other affective disorders, which may lead to a decrease of intellectual functions. Many of these neurological manifestations of the infection are possible to distinguish using radiological imaging techniques. …”
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    Radiological Manifestation of Neurological Complications in the Course of SARS-CoV-2 Infection
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