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To understand the vestibular effects of Cx26 mutations, we evaluated vestibular function and histology of the vestibular sensory epithelia in a conditional knockout (CKO) mouse with Cx26 loss of function.
To determine if allelic differences influence ocular manifestations resulting from Col4a1 and Col4a2 mutations, we evaluated ASD and ONH phenotypes in our allelic series using slit lamp examination and histological analysis, respectively.
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To further understand the role of mtDNA haplogroup on phenotypic expression for 1555A>G mutation, we evaluated the penetrance of hearing loss among 142 pedigrees (Table S3).
In order to verify that the phenotype observed in vivo in different plants was indeed due to differences in the PSI-LHCI supercomplex composition and not to secondary effects of the mutation, we evaluated the resistance to high light of PSI-LHCI particles isolated from the different genotypes.
Based on the previous finding that the major component of efficiency in mutator pathways is due to initial mutator mutations [15], we evaluate the mutator pathway assuming the mutator mutation occurs first.
To assess the mechanism(s) underlying these compensatory mutations, we have evaluated a series of chimeric RNAs derived from a subgenomic GBV-B replicon which autonomously replicates in human hepatoma cells [30].
In the absence of EGFR mutations, we next evaluated EGFR protein expression and phosphorylation status in LCSCs.
In addition to EGFR mutations, we also evaluated another 50 oncogenes thought to have an important role in cancer pathogenesis (Table 4).
To overcome the single mutation detection limitation of point-mutation assays, we evaluated whether additional information on resistance mutations could be gained from the real-time PCR assays.
To determine if the greater nucleotide diversity was due to an increase in the local mutation rate, we evaluated the nucleotide differences in the 28.5 kb sequenced region by comparing one human sequence with one chimpanzee sequence retrieved from the UCSC genome browser.
In monoallelic mutation carriers, we evaluated entire MUTYH gene in search of another possible alteration.
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