A novel NAA10 variant with impaired acetyltransferase activity causes developmental delay, intellectual disability, and hypertrophic cardiomyopathy

Overview of attention for article published in European Journal of Human Genetics, May 2018

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So far, Dimensions has found 28 publications that cite this research output.

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Longitudinal Adaptive Behavioral Outcomes in Ogden Syndrome by Seizure Status and Therapeutic Intervention

Preprint in medRxiv (February 2024)

Dysregulation of N-terminal acetylation causes cardiac arrhythmia and cardiomyopathy

Preprint in bioRxiv (July 2023)

Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome

Article in European Journal of Human Genetics (May 2023)