Jennifer M Gass
6PUBLICATIONS
4CO-AUTHORS
Get your video featured.
Publish with JoVEGet your video featured.
Publish with JoVE
Publications (6)
Sort by Publication Date:
|Jan 30, 2018
Co-occurrence of a novel <i>PDGFRB</i> variant and likely pathogenic variant in <i>CASR</i> in an individual with extensive intracranial calcifications and hypocalcaemia.Natasha N DeMeo, Jeremy D Burgess, Patrick R Blackburn
|Nov 28, 2017
A novel splice site variant in CYP11A1 in trans with the p.E314K variant in a male patient with congenital adrenal insufficiency.Montserrat Lara-Velazquez, Alexander Perdomo-Pantoja, Patrick R Blackburn
|Oct 14, 2017
Expanded phenotype in a patient with spastic paraplegia 7.Jennifer Gass, Patrick R Blackburn, Jessica Jackson
|May 27, 2017
Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in <i>RYR1</i>.Patrick R Blackburn, Duygu Selcen, Jennifer M Gass
|Apr 05, 2017
A case of contralateral breast cancer and skin cancer associated with NBN heterozygous pathogenic variant c.698_701delAACA.Jennifer Gass, Jessica Jackson, Sarah Macklin
|Feb 09, 2017
<i>BARD1</i> nonsense variant c.1921C>T in a patient with recurrent breast cancer.Jennifer Gass, Madeline Tatro, Patrick Blackburn
Pageof 1
