Sentences with phrase «exome sequencing confirmed»
In 2012, exome sequencing confirmed the world's first NGLY1 patient — Bertrand Might, a 7 - year - old boy in Salt Lake City.
http://www.sciencemag.org/ Not exact matches
After a grueling year of tests and hospital stays, exome sequencing finally confirmed Galya's diagnosis: Niemann - Pick type C (NPC), sometimes called «childhood Alzheimer's.»