Publication A novel system for assigning the mode of inheritance in mitochondrial disorders using cybrids and rhodamine 6G.
Publication Metacarpophalangeal pattern profile and bone age in Rett syndrome: further radiological clues to the diagnosis.
Publication Patient with a 22q11.2 deletion with no overlap of the minimal DiGeorge syndrome critical region (MDGCR).
Publication Respiratory chain complex III [correction of complex] in deficiency with pruritus: a novel vitamin responsive clinical feature.