Associated Papers
Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting.
Malmgren H et al.
Frontiers in Genetics, 2025
40620702 (PubMed )
Supplement: Supplementaryfile1.XLSX › Blad1
First description of co-occurrence of 49,XXXXY and X-linked Cornelia de Lange syndrome: case report.
Al-Rashdi S et al.
Frontiers in Endocrinology, 2025
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