Where I see patients (2)
TRAPPC9-related neurodevelopmental disorder: Report of a homozygous deletion in TRAPPC9 due to paternal uniparental isodisomy.
American journal of medical genetics. Part A
Utility of genetic work-up for 46, XY patients with severe hypospadias.
Journal of pediatric urology
Publisher Correction: Application of full-genome analysis to diagnose rare monogenic disorders.
NPJ genomic medicine