Associated Papers
Expanding the mutational spectrum of ReNU syndrome: insights into 5' Stem-loop variants.
Bruselles A et al.
European Journal of Human Genetics : Ejhg, 2025
RNU4-2-Related Neurodevelopmental Disorder Is Associated With a Recognisable Facial Gestalt.
Rosenblum J et al.
Clinical Genetics, 2025
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