Articles with "clinical phenotypic" as a keyword



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Abstract 2276: Efficient curation and ontology mapping of clinical and phenotypic data

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Published in 2018 at "Cancer Research"

DOI: 10.1158/1538-7445.am2018-2276

Abstract: Heterogeneity within and between data sets is one of the primary impediments to sound and efficient data analysis. This heterogeneity can arise from many sources: data collection practices can change over time, even within the… read more here.

Keywords: ontology; clinical phenotypic; ontology mapping; phenotypic data ... See more keywords
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Demographic and clinical phenotypic differences between people with dissociative seizures and those with other psychiatric disorders

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Published in 2021 at "BJPsych Open"

DOI: 10.1192/bjo.2021.18

Abstract: Background A large amount of literature surrounds the differences between dissociative neurological symptom disorder with non-epileptic seizures (DNSD-S) and epilepsy. Aims To explore the research gap on phenotypic differences between DNSD-S and other psychiatric disorders.… read more here.

Keywords: demographic clinical; clinical phenotypic; psychiatric disorders; phenotypic ... See more keywords
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Clinical phenotypic and genotypic characterization of NPRL3-related epilepsy

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Published in 2023 at "Frontiers in Neurology"

DOI: 10.3389/fneur.2023.1113747

Abstract: Background As one of the assembly factors of the GATOR1 protein complex in the mechanism of rapamycin pathway, NPRL3 plays an important role in the pathogenesis of epilepsy. However, the correlation between genotype and clinical… read more here.

Keywords: nprl3 related; nprl3 gene; clinical phenotypic; phenotypic genotypic ... See more keywords