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However, subgroup analysis based on clinical phenotypes of atherosclerosis (clinical and subclinical atherosclerosis) showed that ε4 allele associated with incidence of clinical atherosclerosis [ 35].
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UK participants had an existing diagnosis from one of the English diagnostic centres [ 1, 24] based on clinical phenotype plus high-speed video analysis of ciliary function and/or assessment of ciliary ultrastructure by electron microscopy.
Further stratification of the cohort based on clinical phenotype (current allergic asthmatic status) also revealed similar LPS- and RSV-driven responses among individuals of the two genotypes.
Our assessment focused on two trials where we expected differential expression based on clinical phenotype or treatment regimen.
Abnormal MRI was a better predictor of all clinical adverse outcome measures than PWS distribution; however, for practical reasons guidelines based on clinical phenotype are proposed.
However, guidelines based on clinical phenotyping are proposed for practical purposes so that MRI can be targeted to the highest-risk infants.
The finding of abnormalities unrelated to clinical phenotypes illustrates that important pathology phenotypes will be missed if histopathology is restricted to perceived target organs or tissues based on clinical phenotyping.
Thus, as KDM5C mutation cases are frequently indistinguishable from other genetic causes of ID based on clinical phenotype alone [ 15], DNA methylation analysis could complement KDM5C sequencing to provide more accurate molecular diagnosis leading to improved patient management.
For phenotypic network analysis, we selected 10 key quantitative COPD-related phenotypes based on clinical experts' opinions (co-authors EKS, CPH, and MHC).
Different COPD phenotypes exist based on clinical, physiological, immunological and radiological observations.
All families were screened based on clinical symptoms consistent with the ADLD phenotype.
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