• A molecular diagnosis of hyperparathyroidism-jaw tumor syndrome in an adolescent with recurrent kidney stones
• Angelman syndrome
• Juvenile rheumatoid arthritis in velo-cardio-facial syndrome: coincidence or unusual complication?
• Prevalence of 22q11 region deletions in patients with velopharyngeal insufficiency
• Routine cytogenetic and FISH studies for 17p11/15q11 duplications and subtelomeric rearrangement studies in children with autism spectrum disorders