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 › HLMS06_het
Whole-Exome Sequencing Identifies Novel Variants that Co-segregates with Autosomal Recessive Retinal Degeneration in a Pakistani Pedigree.
Biswas P et al.
Advances in Experimental Medicine and Biology, 2018
A patient with mitochondrial disorder due to a novel mutation in MRPS22.
Kılıç M et al.
Metabolic Brain Disease, 2017
Acrocallosal syndrome: identification of a novel KIF7 mutation and evidence for oligogenic inheritance.
Walsh DM et al.
European Journal of Medical Genetics, 2013
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