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Publication

Persistent truncus arteriosus in monozygotic twins: case report and literature review.

Publication

Respiratory chain complex III [correction of complex] in deficiency with pruritus: a novel vitamin responsive clinical feature.

Publication

Rett syndrome: randomized controlled trial of L-carnitine.

Publication

Metacarpophalangeal pattern profile and bone age in Rett syndrome: further radiological clues to the diagnosis.

Publication

Surfactant protein B deficiency: clinical, histological and molecular evaluation.

Publication

Prolonged QT interval in Rett syndrome.

Publication

A population-based approach to the investigation of osteopenia in Rett syndrome.

Publication

The molecular basis of malonyl-CoA decarboxylase deficiency.

Publication

Flow cytometric evaluation of defects of the mitochondrial respiratory chain.

Publication

A novel system for assigning the mode of inheritance in mitochondrial disorders using cybrids and rhodamine 6G.