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Reverse phenotyping after whole-exome sequencing in children with developmental delay/intellectual disability
Nikola Ilic, Nina Maric, Aleš Maver, Lluis Armengol, Ružica Kravljanac, Jana Cirkovic, Jovana Krstić, Borut Peterlin
Izvirni znanstveni članek
Oznake: developmental delay;intellectual disability;whole-exome sequencing;reverse phenotyping;neural network analysis;
This study delves into the diagnostic yield of whole-exome sequencing (WES) in pediatric patients presenting with developmental delay/intellectual disability (DD/ID), while also exploring the utility of Reverse Phenotyping (RP) in refining diagnoses. A cohort of 100 pediatric patients underwent WES, ...
Leto: 2024 Vir: Digitalni repozitorij raziskovalnih organizacij Slovenije
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