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
Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.
Maas SM et al.
European Journal of Medical Genetics, 2015
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