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DHTKD1 Mutations Cause 2-Aminoadipic and 2-Oxoadipic Aciduria
Download from www.ncbi.nlm.nih.govSepiapterin reductase deficiency: A treatable mimic of cerebral palsy
Download from dx.doi.orgPRRT2 Mutations Are the Major Cause of Benign Familial Infantile Seizures
Download from www.researchgate.netMolecular diagnosis in mitochondrial complex I deficiency using exome sequencing
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