Completed
Biallelic LoF mutations in WDR11 are associated with ID and short stature
Class Central Classrooms beta
YouTube videos curated by Class Central.
Classroom Contents
The Power of Whole Exome Sequencing to Unravel the Cause of Rare Disease
Automatically move to the next video in the Classroom when playback concludes
- 1 The power of whole exome sequencing to unravel the cause of rare disease
- 2 Implementation of WES
- 3 xGen Human mtDNA Research Panel
- 4 DEGS1 mutation cause a new mutisystemic neurological disorder
- 5 Using spike-in probes for detection of known splice mutations
- 6 Germline GPR161 alterations cause medulloblastoma predisposition
- 7 CNV and LOH detection with WES data
- 8 Biallelic LoF mutations in WDR11 are associated with ID and short stature
- 9 A hereditary myopathy caused by mutations in SVIL
