• Association of distal arthrogryposis, mental retardation, whistling face, and Pierre Robin sequence: evidence for nosologic heterogeneity
• Eosinophilic cellulitis: five cases
• Eponymous Jacobsen syndrome: mapping the breakpoints of the original family suggests an association between the distal 1.1 Mb of chromosome 21 and osteoporosis in Down syndrome
• Fifteen cases of Pendred's syndrome. Congenital deafness and sporadic goiter
• Hypercalcemia in early childhood associated with cardiovascular abnormalities
• Intravenous immunoglobulin: a single-blind trial in children with Lennox-Gastaut syndrome
• Is MED13L-related intellectual disability a recognizable syndrome?
• Lesch-Nyhan syndrome
• Nasal vaccination against SARS-CoV-2: Synergistic or alternative to intramuscular vaccines?
• Oral findings in DiGeorge syndrome
• Parents' Assessment of Disability in Their Children With Down Syndrome
• Phenotypic heterogeneity and mosaicism in Xia-Gibbs syndrome: Five Danish patients with novel variants in AHDC1
• Phenotypical and functional characterization of double-negative (CD4-CD8-) alpha beta T-cell receptor positive cells from an immunodeficient patient
• Physiopathologic mechanisms behind eye symptoms in primary tumors of the pineal body
• Recurrent nodular haemangiomas in Klippel-Trenaunay syndrome
• Reye's syndrome
• Thyroid carcinoma in Pendred's syndrome
• Treatment of Frey syndrome with intracutaneous injections of botulinum toxin