Month: <span>October 2024</span>
Month: October 2024

The Hydronephrosis Severity Index guides paediatric antenatal hydronephrosis management based on artificial intelligence applied to ultrasound images alone

Sci Rep. 2024 Oct 1;14(1):22748. doi: 10.1038/s41598-024-72271-9. ABSTRACT Antenatal hydronephrosis (HN) impacts up to 5% of pregnancies and requires close, frequent follow-up monitoring to determine …

Diagnostic yield of exome sequencing-based copy number variation analysis in Mendelian disorders: a clinical application

BMC Med Genomics. 2024 Sep 30;17(1):239. doi: 10.1186/s12920-024-02015-1. ABSTRACT Next-generation sequencing (NGS) coupled with bioinformatic tools has revolutionized the detection of copy number variations (CNVs), …