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They will give placebos to another 100 people with the mutation and to 100 family members who do not carry the deadly gene.
To describe the phenotype of an individual homozygous for the common Gln368STOP myocilin mutation and to discuss the other family members.
To describe the disease course in patients with vitelliform macular dystrophy (VMD) with a Best1 mutation and to determine the association between Best1 genotype and visual prognosis.
To describe the genotype phenotype correlation in a German family with a novel CRX mutation and to perform a comparative analysis of published cases.
Given its non-invasive nature, plasma ctDNA is being explored as a possible approach to detect T790M mutation and to also inform on novel molecular mechansims of tertiary resistance to third generation EGFR TKIs.
To assess the prevalence of PRPH2 in autosomal dominant retinitis pigmentosa (adRP), to report 6 novel mutations, to characterize the biochemical features of a recurrent novel mutation, and to study the clinical features of adRP patients.
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Children are created by applying operations analogous to mutation and recombination to their parents.
To describe the phenotypic variability in 22 patients with PRPH2 gene mutations and to report six novel mutations.
All PCR products were sequenced to verify the mutation rate for all the new mutations and to get the mutant genes sequence for SPT15-Mu and TAF23-Mu.
The aim of this study is to evaluate the clinical characteristic of those patients with mutations and to compare them to unmutated CH suffers.
Here, a subpopulation of Chinese patients with incontinentia pigmenti were examined to investigate the frequency and pattern of NEMO mutations, and to analyze their clinical features.
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