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Author

Norbert Dukuze

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2 papers indexed here

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Open access Sep 2026

Clinical Utility of Trio Exome Sequencing in Rwandan Children With Autism Spectrum Disorder

This study aimed to characterize rare, clinically relevant genetic variants in a Rwandan pediatric ASD cohort using trio‐based whole‐exome sequencing (WES) using trio‐based whole‐exome sequencing (WES).

Olivier Hakizimana, J. Hitayezu, J. P. Uyisenga et al. · 0 citations
Open access 2026

A Novel Variant of ARID1B-Related CSS in a Rwandan patient: A Case Report

INTRODUCTION: CSS (CSS) is a rare neurodevelopmental disorder characterized by developmental delay, intellectual disability, hypotonia, distinctive craniofacial dysmorphism, and hypoplasia or aplasia of the distal phalanges or nails, particularly of the fifth digits. Pathogenic variants involving genes encoding compone...

Adelaide Urugwiro Horanimpundu, Norbert Dukuze, Hannah Umutoni Mugaragu et al. · 0 citations

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