• A chronic, infantile, neurological, cutaneous and articular (CINCA) syndrome. A specific entity analysed in 30 patients
• A novel homozygous frame-shift mutation in the SLC29A3 gene: a new case report and review of literature
• Analysis of the vitreous membrane in a case of type 1 Stickler syndrome
• Clinical and Molecular Characterization and Discovery of Novel Genetic Mutations of Chinese Patients with <em>COL2A1</em>-related Dysplasia
• Clinical and Molecular genetics of Stickler syndrome
• H syndrome: 5 new cases from the United States with novel features and responses to therapy
• Rare manifestations of sarcoidosis in a young boy
• SLC29A3 mutation in a patient with syndromic diabetes with features of pigmented hypertrichotic dermatosis with insulin-dependent diabetes, H syndrome and Faisalabad histiocytosis
• Syndrome for diagnosis: dwarfing, persistently open fontanelle; recurrent meningitis; recurrent subdural effusions with temporary alternate-sided hemiplegia; high-tone deafness; visual defect with pseudopapilloedema; slowing intellectual development; recu
• Unusual calcium deposition in cartilage associated with short stature and peculiar facial features: a case report