Associated Papers
Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease.
Dueñas Rey A et al.
Genome Medicine, 2024
38184646 (PubMed )
Supplement: 13073_2023_1277_MOESM1_ESM.xlsx › Table_S11
Catching the Culprit: How Chorea May Signal an Inborn Error of Metabolism.
Ortigoza-Escobar JD
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2023
37810989 (PubMed )
Supplement: tohm-13-1-801-s4.xlsx › Hoja1
Costeff optic atrophy syndrome: new clinical case and novel molecular findings.
Ho G et al.
Journal of Inherited Metabolic Disease, 2008
OPA3 mutation screening in patients with unexplained 3-methylglutaconic aciduria.
Neas K et al.
Journal of Inherited Metabolic Disease, 2005
Select a paper to view details