Produzione scientifica
Found 4 results
Filtri: Autore is Dionisi-Vici, C. [Clear All Filters]
Two novel mutations of the human Δ7-sterol reductase (DHCR7) gene in children with Smith-Lemli-Opitz syndrome,
, Molecular and Cellular Probes, Volume 16, Number 4, p.315-318, (2002)
The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome,
, Neurology, Volume 56, Number 5, p.687-690, (2001)
Novel 7-DHCR mutation in a child with Smith-Lemli-Opitz syndrome,
, American Journal of Medical Genetics, Volume 91, Number 2, p.138-140, (2000)
A novel CBFA1 mutation (R190W) in an Italian family with cleidocranial dysplasia.,
, Human mutation, Volume 16, Number 3, p.277, (2000)