6 results on '"Mahieu, Quinten"'
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2. Combining a prioritization strategy and functional studies nominates 5’UTR variants underlying inherited retinal disease
3. Autozygome‐guided exome‐first study in a consanguineous cohort with early‐onset retinal disease uncovers an isolated RIMS2 phenotype and a retina‐enriched RIMS2 isoform.
4. Mutations in SAMD7 cause autosomal-recessive macular dystrophy with or without cone dysfunction
5. Comparative 3D genome analysis between neural retina and retinal pigment epithelium reveals differential cis-regulatory interactions at retinal disease loci.
6. Comparative 3D genome analysis between neural retina and RPE reveals differentialcis-regulatory interactions at retinal disease loci
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