Associated Papers
Expanding the clinical and genetic spectrum of GLUL-related developmental and epileptic encephalopathy.
Oh DE et al.
Scientific Reports, 2025
Age-related mutations associated with clonal hematopoietic expansion and malignancies.
Xie M et al.
Nature Medicine, 2014
25326804 (PubMed )
Supplement: NIHMS630249-supplement-7.xlsx › supplementaryTable3b.txt
MITO-FIND: A study in 390 patients to determine a diagnostic strategy for mitochondrial disease.
Kerr M et al.
Molecular Genetics and Metabolism, 0
Two Siblings With Valproate-Related Hyperammonemia and Novel Mutations in Glutamine Synthetase (GLUL) Treated With Carglumic Acid.
Bennett J et al.
Child Neurology Open, 0
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