Sentence examples for mutation examination and from inspiring English sources

However, due to the unformatted mutation descriptions in the publications, it is a time-consuming and labor intensive task for the mutation examination and disease category.

In patients carrying WT1 mutations further medical examination and regular check-ups are required given the higher risk of developing malignancies.

The PSEN1 mutation carriers also underwent neurological examination and detailed neuropsychological assessment.

Confirmation of the clinical diagnosis included decreased serum ceruloplasmin concentration, high serum non-ceruloplasmin-bound copper concentration, low serum copper concentration, elevated 24-h urinary copper excretion, elevated hepatic copper content (>250 μg/g dry weight), the presence of Kayser-Fleischer rings by slit lamp examination, and ATP7B mutation.

An examination and thoughtful recommendations.

While further analysis might uncover phenotypes associated with this hypomorphic mutation, detailed examination of either cells or mice seemed unjustified in the absence of any greater effect on gene expression.

Dooley et al. [ 14] examined 507 women with an elevated risk for breast cancer (based on elevated Gail index, prior history of invasive or noninvasive breast cancer, or presence of a BRCA mutation), but with low-suspicion physical examinations and mammograms, by performing nipple aspiration followed by DL.

In this series, in 19 of 35 patients with proven mutations, neuropathological examination of a sural nerve or skin biopsy was performed.

Examination of the mutation spectra and rates in genes and junk reveals what DNA repair mechanisms are available to plant mitochondria, and what selective forces act on the repair products.

Mutations and rearrangements and clumps….

The involvement of a COOH/COO– group(s) in the hydrogen bond network around D2-K317 and Cl-1 was also revealed by the change in the C=O stretching band of COOH at 1750 1740 cm–1; the negative peak at 1748 cm 1 in the untreated PSII from WT was changed to a positive peak at 1742 1743 cm–1 by both the D2-K317R mutandoNO3nd NO3– treatment upon examination in moderately hydrated films.