Open access
Aug 2026
Chromosomal Microarray Analysis in Pediatric Patients with Neurodevelopmental Disorders and Congenital Anomalies: A Two-Center Experience
The findings highlight the importance of detailed phenotyping, breakpoint analysis, and segregation studies in interpreting CNVs, particularly VUS and rare intragenic disruptions.
Hatice Koçak Eker, Sezin Canbek
· OSMANGAZİ JOURNAL OF MEDICIN... · 0 citations