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 › HLMS04_het
Conotruncal malformations and absent thymus due to a deleterious NKX2-6 mutation.
Ta-Shma A et al.
Journal of Medical Genetics, 2014
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