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 › HPK5_het
Identification of a novel variant of the ciliopathic gene FUZZY associated with craniosynostosis.
Barrell WB et al.
European Journal of Human Genetics : Ejhg, 2022
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