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  1. 10301
    “…Background: Lesch-Nyhan disease (LND) is a rare disorder involving pathogenic variants in the HPRT1 gene encoding the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT) that result in hyperuricemia, intellectual disability, dystonic movement disorder, and compulsive self-mutilation. …”
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    Description of the Molecular and Phenotypic Spectrum of Lesch-Nyhan Disease in Eight Chinese Patients
  2. 10302
    “…In addition to age, molecular subtypes and the onset of seizures may also correlate with these patients' intellectual development. The GMDS-C is an accurate tool that can assess the clinical characteristics of AS. …”
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    Epilepsy and Molecular Phenotype Affect the Neurodevelopment of Pediatric Angelman Syndrome Patients in China
  3. 10303
    por Yun, Lou
    Publicado 2022
    “…This paper stands in the perspective of intellectual enterprises and studies the problem of knowledge sharing. …”
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    Genealogical Clustering and Coordination Analysis of Knowledge-Driven Labor Competitiveness in the Context of Sharing Economy
  4. 10304
    “…Finally, drug likeness evaluations based on Lipinski’s rule of five also showed that the discovered compounds exhibited good oral bioavailability. (4) Conclusions: It is foreseeable that these results provide a novel intellectual contribution in light of the decreasing prevalence of SARS-CoV-2 B.1.1.529 and could be a good addition to the therapeutic protocol.…”
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    Conducting the RBD of SARS-CoV-2 Omicron Variant with Phytoconstituents from Euphorbia dendroides to Repudiate the Binding of Spike Glycoprotein Using Computational Molecular Search and Simulation Approach
  5. 10305
    “…The purpose of this study is to explore the intellectual landscape of research investigating methods for the detection of pathogens in patients with CNS infections and to identify the development trends and research frontier in this field. …”
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    Trends and Developments in the Detection of Pathogens in Central Nervous System Infections: A Bibliometric Study
  6. 10306
    “…Genetic studies of complex disorders such as autism and intellectual disability (ID) are often based on enrichment of individual rare variants or their aggregate burden in affected individuals compared to controls. …”
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    A general framework for identifying oligogenic combinations of rare variants in complex disorders
  7. 10307
    “…By mapping the knowledge domains of nanomedicine in targeted delivering of nucleic acids, this study analyzed the intellectual structure of this domain in the recent 10 years, highlighting classical modifications on nanoparticles and estimating future trends for researchers and decision-makers interested in this field.…”
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    Trends and Hotspots in Nanoparticles for the Targeted Delivery of Nucleic Acids: A Ten-Year Bibliometric Study
  8. 10308
    “…However, little is known about how federal agencies’ utilization of FFRDCs, their modes of R&D collaboration, and their adoption of non-patent intellectual property (IP) policies (copyright protection and materials transfer agreements) affect agency-level performance in technology transfer. …”
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    Exploring the role of R&D collaborations and non-patent IP policies in government technology transfer performance: Evidence from U.S. federal agencies (1999–2016)
  9. 10309
    Publicado 2022
    “…On detailed history patient had history of talking to self and animals since 4 years and poor intellectual functioning since young. No evidence of organicity like fever, loss of consciousness, seizures, head injury,vomiting etc., was present. …”
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    Nutritional and diabetic neuropathy presenting as Catatonia
  10. 10310
    “…Background: ZEB2 gene mutations or deletions cause Mowat-Wilson syndrome (MWS), which is characterized by distinctive facial features, global developmental delay, intellectual disability, epilepsy, friendly and happy personalities, congenital heart disease, Hirschsprung disease and multiple congenital anomalies. …”
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    Three Novel De Novo ZEB2 Variants Identified in Three Unrelated Chinese Patients With Mowat-Wilson Syndrome and A Systematic Review
  11. 10311
    por Gosain, Kritika, Samanta, Tannistha
    Publicado 2022
    “…It is surprising that although 12 million people in India suffer from epilepsy this remains a thoroughly under-researched area in the sociology of health and practice. We address this intellectual and policy neglect by reviewing the social, psychological and legal challenges governing the lives of people living with epilepsy (PWE) by paying particular attention to negotiations in arranged marriages and employment. …”
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    Understanding the Role of Stigma and Misconceptions in the Experience of Epilepsy in India: Findings From a Mixed-Methods Study
  12. 10312
    “…Here we report multiple individuals with biallelic HEATR3 variants exhibiting bone marrow failure, short stature, facial and acromelic dysmorphic features, and intellectual disability. These variants destabilize a protein whose yeast homolog is known to synchronize the nuclear import of RPs uL5 (RPL11) and uL18 (RPL5), which are both critical for producing ribosomal subunits and for stabilizing the p53 tumor suppressor when ribosome biogenesis is compromised. …”
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    HEATR3 variants impair nuclear import of uL18 (RPL5) and drive Diamond-Blackfan anemia
  13. 10313
    “…The male proband presented with most of the typical phenotypic features of FHS, including short stature, skeletal and facial features, delayed growth and bone age, high pitched voice, and intellectual impairment. The proband also had partial growth hormone deficiency. …”
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    Molecular Genetics and Pathogenesis of the Floating Harbor Syndrome: Case Report of Long-Term Growth Hormone Treatment and a Literature Review
  14. 10314
    “…Pathogenic variants in RPS6KA3 are associated with Coffin-Lowry syndrome (CLS), an X-linked semidominant disorder characterized by intellectual disability, stimulus-induced drop attacks, distinctive facial features, progressive kyphoscoliosis, and digit anomalies in hemizygous males. …”
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    Short Bones, Renal Stones, and Diagnostic Moans: Hypercalcemia in a Girl Found to Have Coffin-Lowry Syndrome
  15. 10315
    “…One patient with Wolcott-Rallison syndrome (WRS) and 21α-hydroxylase deficiency had poor growth and intellectual difficulty. The rest demonstrated satisfactory growth with an increase of mean weight centile from 2(nd) to 13(th), height centile from 6.5(th) to 20(th) and normal neuro-cognitive development. …”
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    Genetic Heterogeneity and Challenges in the Management of Permanent Neonatal Diabetes Mellitus: A Single-Centre Study from South India
  16. 10316
    “…Seven of the 37 patients with accidental foreign body ingestion had intellectual disability, Lou Gehrig’s disease, dystonia, or oral and maxillofacial cancer. …”
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    Foreign body aspiration and ingestion in dental clinic: a seven-year retrospective study
  17. 10317
    “…UPF3B mutations cause intellectual disability. The underlying molecular mechanisms remain elusive, as many of the mutations lie in the poorly characterized middle-domain of UPF3B. …”
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    Structures of nonsense-mediated mRNA decay factors UPF3B and UPF3A in complex with UPF2 reveal molecular basis for competitive binding and for neurodevelopmental disorder-causing mutation
  18. 10318
    “…Autosomal recessive Cohen syndrome is a neurodevelopmental disorder characterized by postnatal microcephaly, intellectual disability, and a typical facial gestalt. …”
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    Disease relevance of rare VPS13B missense variants for neurodevelopmental Cohen syndrome
  19. 10319
    por Xiao, Lan, Loh, Yoke Peng
    Publicado 2022
    “…Families carrying null and homozygous non-sense mutations of the NF-α1/CPE gene share common clinical features including childhood onset obesity, type 2 diabetes, impaired intellectual abilities and hypogonadotrophic hypogonadism. …”
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    Neurotrophic Factor-α1/Carboxypeptidase E Functions in Neuroprotection and Alleviates Depression
  20. 10320
    por Rosenheck, Mabel
    Publicado 2022
    “…Beyond documenting each effort, the essay puts these scientific and ethical debates in dialogue with the social, epidemiological, and institutional conditions of the pandemic as well as the commercial, intellectual, and political systems in which medical research and Covid-19 challenge studies operated. …”
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    Risk, benefit, and social value in Covid-19 human challenge studies: pandemic decision making in historical context
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