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Individual-based morphological brain network organization and its association with autistic symptoms in young children with autism spectrum disorder
(Wiley, 2021-07)
Individual-based morphological brain networks built from T1-weighted magnetic resonance imaging (MRI) reflect synchronous maturation intensities between anatomical regions at the individual level. Autism spectrum disorder ...
MMADHC Premature Termination Codons in the Pathogenesis of Cobalamin D Disorder: Potential of Translational Readthrough Reconstitution
(Elsevier, 2021-03)
Mutations in the MMADHC gene cause cobalamin D disorder (cblD), an autosomal recessive inborn disease with defects in intracellular cobalamin (cbl, vitamin B12) metabolism. CblD patients present methylmalonic aciduria ...