Associated Papers
Optical genome mapping unveils hidden structural variants in neurodevelopmental disorders.
Schrauwen I et al.
Scientific Reports, 2024
38755281 (PubMed )
Supplement: 41598_2024_62009_MOESM2_ESM.docx
X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes.
Philips AK et al.
Orphanet Journal of Rare Diseases, 2014
[Exome sequencing revealed Allan-Herndon-Dudley syndrome underlying multiple disabilities].
Arvio M et al.
Duodecim; Laaketieteellinen Aikakauskirja, 2014
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