PubMed:31801603 / 326-622
Annnotations
PubMed_Structured_Abstracts
{"project":"PubMed_Structured_Abstracts","denotations":[{"id":"T2","span":{"begin":0,"end":296},"obj":"METHODS"}],"text":"We applied a combination of systematic experimental and bioinformatic methods to improve the molecular diagnosis of 39 patients with multiple congenital abnormalities and/or intellectual disability harboring apparent de novo SVs, most with an inconclusive diagnosis after regular genetic testing."}