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This study emphasizes the significance of mutation screening for diagnosis, risk-assessment, and mutation-site specific management in LQTS patients.
Because there was neither family history data of the patients nor germline mutation screening for MLH1 or MSH2, we cannot exclude the presence of hereditary non polyposis colorectal cancer in our series of tumors.
Since there was neither family history data of the patients nor germline mutation screening for MLH1 or MSH2, it is likely that some individuals with an early onset MSI CRC enrolled in this study harbored hereditary non polyposis tumors.
We identified 537 Chinese LHON patients with one of the three primary mutations (m.3460G>A, m.11778G>A, or m. 14484T>C) during our recent campaign for comprehensive mutation screening for this disease in a large cohort of patients (N = 1,626) with clinical feature of LHON or suspected with LHON [15], [21].
Mutation screening for BRCA1, BRCA2, PALB2, BRIP1, RAD50, and CDH1 was performed by direct sequencing.
Mutation screening for all three SNPs was performed by qPCR followed by high resolution melting analysis.
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Individual Co-166 was mutation screened for all fragments.
We performed a mutation screen for variants in the SH2B1 coding sequence in 95 extremely obese children and adolescents.
The creB and creC genes were identified in a mutation screen for genes showing derepression for the amdS gene (encoding acetamidase), and the mutant strains show pleiotropic derepression for a number of systems (Hynes and Kelly 1977).
High-resolution melting was used for mutation screening of mitochondrial complex I subunits genes.
human peptide transporter (SLC15A1) and human glypican5 (GPC5) for mutation screening from this region.
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