Kay Gurtz
HOPE Clinic(US)
Publications by Year
Research Areas
Glaucoma and retinal disorders, Mitochondrial Function and Pathology, Ophthalmology and Visual Impairment Studies, Glycosylation and Glycoproteins Research, Retinal Development and Disorders
Most-Cited Works
- → Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase(2004)384 cited
- → Defective Mitochondrial mRNA Maturation Is Associated with Spastic Ataxia(2010)85 cited
- → Homozygous mutation of MYBPC3 associated with severe infantile hypertrophic cardiomyopathy at high frequency among the Amish(2008)76 cited
- → SLITRK6 mutations cause myopia and deafness in humans and mice(2013)67 cited