Kimberly Stepien
2PUBLICATIONS
3CO-AUTHORS
Get your video featured.
Publish with JoVEGet your video featured.
Publish with JoVE
Publications (2)
Sort by Publication Date:
|Aug 08, 2025
Bilateral retinal dystrophy and unilateral hearing loss caused by mosaic phosphoribosyl pyrophosphate synthetase 1 deficiency: expanding the spectrum of an ultrarare neurometabolic disorder.Pankaj Prasun, Elizabeth Kellom, Kimberly Stepien
|Dec 12, 2023
Male infertility may be associated with IFT140-related autosomal recessive retinitis pigmentosa.Leslie Huang, Elizabeth Kellom, Kimberly Stepien
Pageof 1
