Sentences with phrase «establish syndromic»

This scientific approach has served clinicians well in their effort to establish syndromic patterns that streamline the number of phenotypes to consider.

Not exact matches

Characterizing disease in this way established a nosology that has served clinicians well to the current time, and depends on observational skills and simple laboratory tools to define the syndromic phenotype.

Manou Sommen and colleagues report a study of a targeted resequencing panel for hearing loss was developed including 79 genes for nonsyndromic hearing loss (NSH) L and selected forms of syndromic hearing loss.They established a straightforward variant classification system to deal with the large number of variants encountered and showed that after GJB2, the most commonly mutated genes in a Western - European population are TMC1, MYO15A, and MYO7A.