Last Updated: 09/26/2026
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Found 3 publications
Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: July 05, 2024
Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions.
Journal: Journal of inherited metabolic disease
Published: May 21, 2020
Malignant brain tumors in patients with glutaric aciduria type I.
Journal: Molecular genetics and metabolism
Published: May 30, 2018
Showing 1-3 of 3
Last Updated: 09/26/2026