Publication Rett syndrome: significant clinical overlap with Angelman syndrome but not with methylation status.
Publication Novel Mitochondrial DNA Variant That May Give a False Positive Diagnosis for the T8993C Mutation.
Publication Early treatment of Menkes disease with parenteral copper-histidine: long-term follow-up of four treated patients.
Publication Complex I deficiency in association with structural abnormalities of the diaphragm and brain.
Publication Intragenic complementation at the argininosuccinate lyase locus: reconstruction of the active site.
