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  1. 11381
    “…BACKGROUND: Patents are important intellectual property protecting technological innovations that inspire efficient research and development in biomedicine. …”
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    Technological Innovations in Disease Management: Text Mining US Patent Data From 1995 to 2017
  2. 11382
    por Płatos, Mateusz, Pisula, Ewa
    Publicado 2019
    “…Young people with a coexisting intellectual disability used more services than those without it. …”
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    Service use, unmet needs, and barriers to services among adolescents and young adults with autism spectrum disorder in Poland
  3. 11383
    “…“Beyond ion channel diseases” and “genetic techniques,” however, have gradually grown into research cores and trends, such as “intellectual disability,” “infantile spasms,” “phenotype,” “exome,” “ deoxyribonucleic acid (DNA) copy number variations,” and “application of next-generation sequencing.” …”
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    Mapping the knowledge structure and trends of epilepsy genetics over the past decade: A co-word analysis based on medical subject headings terms
  4. 11384
    “…PURPOSE: The interpretation of genetic variants after genome-wide analysis is complex in heterogeneous disorders such as intellectual disability (ID). We investigate whether algorithms can be used to detect if a facial gestalt is present for three novel ID syndromes and if these techniques can help interpret variants of uncertain significance. …”
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    Next-generation phenotyping using computer vision algorithms in rare genomic neurodevelopmental disorders
  5. 11385
    “…RESULTS: We found severity of developmental delay/intellectual disability correlating with severity of microcephaly in PM, but not SM. …”
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    Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly
  6. 11386
    por Guo, Hui, Li, Ying, Shen, Lu, Wang, Tianyun, Jia, Xiangbin, Liu, Lijuan, Xu, Tao, Ou, Mengzhu, Hoekzema, Kendra, Wu, Huidan, Gillentine, Madelyn A., Liu, Cenying, Ni, Hailun, Peng, Pengwei, Zhao, Rongjuan, Zhang, Yu, Phornphutkul, Chanika, Stegmann, Alexander P. A., Prada, Carlos E., Hopkin, Robert J., Shieh, Joseph T., McWalter, Kirsty, Monaghan, Kristin G., van Hasselt, Peter M., van Gassen, Koen, Bai, Ting, Long, Min, Han, Lin, Quan, Yingting, Chen, Meilin, Zhang, Yaowen, Li, Kuokuo, Zhang, Qiumeng, Tan, Jieqiong, Zhu, Tengfei, Liu, Yaning, Pang, Nan, Peng, Jing, Scott, Daryl A., Lalani, Seema R., Azamian, Mahshid, Mancini, Grazia M. S., Adams, Darius J., Kvarnung, Malin, Lindstrand, Anna, Nordgren, Ann, Pevsner, Jonathan, Osei-Owusu, Ikeoluwa A., Romano, Corrado, Calabrese, Giuseppe, Galesi, Ornella, Gecz, Jozef, Haan, Eric, Ranells, Judith, Racobaldo, Melissa, Nordenskjold, Magnus, Madan-Khetarpal, Suneeta, Sebastian, Jessica, Ball, Susie, Zou, Xiaobing, Zhao, Jingping, Hu, Zhengmao, Xia, Fan, Liu, Pengfei, Rosenfeld, Jill A., de Vries, Bert B. A., Bernier, Raphael A., Xu, Zhi-Qing David, Li, Honghui, Xie, Wei, Hufnagel, Robert B., Eichler, Evan E., Xia, Kun
    Publicado 2019
    “…Analysis of 17 patients identifies common phenotypes including autism, intellectual disability, language and motor delay, seizures, macrocephaly, and variable ocular abnormalities. …”
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    Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission
  7. 11387
    “…We identified 10 individuals from six unrelated families, exhibiting a neurodevelopmental disorder characterized with a spectrum of central (intellectual disability, developmental delay, motor impairment, speech difficulties) and peripheral (early onset demyelinating neuropathy) neurological involvement, who were found by exome or genome sequencing to carry one frameshift and four different homozygous non-synonymous variants in NFASC. …”
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    Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination
  8. 11388
    “…RESULTS: The 22q11.2 deletion (hazard ratio [HR] 8.86, 95% CI 2.87–27.37) and major congenital heart disease (CHD; HR 5.03, 95% CI 2.27–11.17), but not intellectual disability or psychotic illness, were significant independent predictors of mortality for adults with 22q11.2DS compared with their siblings. …”
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    All-cause mortality and survival in adults with 22q11.2 deletion syndrome
  9. 11389
    “…BACKGROUND: Pitt-Hopkins syndrome (PTHS) is a genetic neurodevelopmental disorder associated with intellectual disability. Although the genetic mechanisms underlying the disorder have been identified, description of its behavioural phenotype is in its infancy. …”
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    Behavioural and psychological characteristics in Pitt-Hopkins syndrome: a comparison with Angelman and Cornelia de Lange syndromes
  10. 11390
    “…CONCLUSIONS: Findings from this investigation strongly suggest that the PPVT-III should not be used as a screening tool for language levels or cognitive function in clinical studies since the scores from the PPVT-III were not representative of global language or non-verbal cognitive skills in adults with intellectual disabilities. This finding is critical in order to understand how to evaluate, as well as to treat, language in individuals with FXS. …”
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    Vocabulary comprehension in adults with fragile X syndrome (FXS)
  11. 11391
    “…Gain-of-function mutations in the human NALCN gene cause encephalopathy and severe intellectual disability. Thus, understanding the regulatory mechanisms of NALCN is important for both basic and translational research. …”
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    Methylation determines the extracellular calcium sensitivity of the leak channel NALCN in hippocampal dentate granule cells
  12. 11392
    “…However, not all neurological, intellectual disability, and comorbid phenotypes in SeSAME syndrome can be mechanistically linked solely to Kir4.1 dysfunction. …”
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    Identification and functional characterization of two novel mutations in KCNJ10 and PI4KB in SeSAME syndrome without electrolyte imbalance
  13. 11393
    “…AS leads to stiff and jerky gait, excess laughter, seizures, and severe intellectual disability. In some parts of the brain, the paternally inherited UBE3A gene is subject to genomic imprinting by the action of the UBE3A-antisense transcript (UBE3A-ATS) on the paternally inherited allele. …”
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    A placebo-controlled trial of folic acid and betaine in identical twins with Angelman syndrome
  14. 11394
    “…The estimated ORs and respective frequencies in deletion carriers for intellectual disabilities, schizophrenia and epilepsy are 1.7 (3.4%), 1.5 (2%) and 3.1 (2.1%), respectively. …”
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    Estimating the effect size of the 15Q11.2 BP1–BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice
  15. 11395
    “…It is an important cause of preventable hearing loss, affects children's intellectual performance and language development. There are very small numbers of studies done in Ethiopia concerning this topic. …”
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    Bacterial profile and antibacterial susceptibility of otitis media among pediatric patients in Hawassa, Southern Ethiopia: cross-sectional study
  16. 11396
    “…BACKGROUND: Screening for congenital hypothyroidism (CH) using cord blood or heel-stick samples is considered essential for the prevention of long-term complications CH, which include intellectual disability and slow growth. OBJECTIVE: Compare the sensitivity and specificity of cord blood and heel-stick samples for determining thyroid-stimulating hormone (TSH) levels for the detection of CH. …”
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    Cord blood versus heel-stick sampling for measuring thyroid stimulating hormone for newborn screening of congenital hypothyroidism
  17. 11397
    “…Engagement in leisure activities, i.e., intellectual, social, and physical activities, may reduce the risk of incident dementia, yet little is known about the longitudinal, dynamic relationship between overall leisure activity engagement and cognition in older adulthood. …”
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    DYNAMIC, BIDIRECTIONAL LONGITUDINAL RELATIONSHIP BETWEEN LEISURE ACTIVITY ENGAGEMENT AND COGNITIVE PERFORMANCE
  18. 11398
    “…BACKGROUND: Kabuki syndrome is a rare genetic disorder characterized by distinct dysmorphic facial features, growth deficiency, intellectual disabilities, unusual dermatoglyphic patterns, and skeletal abnormalities. …”
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    Diagnosis and Management of Hip Dislocation in Patients with Kabuki Syndrome
  19. 11399
    “…PURPOSE: We observed four individuals in two unrelated but consanguineous families from Portugal and Brazil affected by early-onset retinal degeneration, sensorineural hearing loss, microcephaly, intellectual disability, and skeletal dysplasia with scoliosis and short stature. …”
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    The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in the PISD gene
  20. 11400
    “…Shared characteristics of affected individuals include developmental delay, brain abnormalities (mainly ventriculomegaly and/or brain atrophy), intellectual disability, spasticity, language disorder, microcephaly, optic atrophy, and seizures. …”
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    Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities
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