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 › HLMS33_het
Glycosylation in congenital muscular dystrophies.
Endo T et al.
Biological & Pharmaceutical Bulletin, 2003
[Finding of O-mannosyl glycan in mammals and congenital muscular dystrophies due to glycosylation defects].
Endo T
Yakugaku Zasshi : Journal of the Pharmaceutical Society of Japan, 2003
Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease.
Taniguchi K et al.
Human Molecular Genetics, 2003
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