Associated Papers
Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.
Khan H et al.
Scientific Reports, 2024
39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › HLMS03_het
A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapies.
Srivastava S et al.
Human Molecular Genetics, 2017
28973549 (PubMed )
Supplement: 1_supplementary_material_revised_final_nomarkings_ddx347.pdf
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