• Anesthetic management in surgery of a descending aortic aneurysm in an eighteen-month-old boy
• Association of aortic arch anomalies and subclavian artery supply disruption with neurofibromatosis
• Familial bilateral blepharoptosis and subvalvular aortic stenosis
• Further Expansion of the Mutational Spectrum of 3MC Syndrome: A Novel <em>MASP1</em> Pathogenic Variant in a Male Patient
• Pure direct duplication (12)(q24.1--&gt;q24.2) in a child with Marcus Gunn phenomenon and multiple congenital anomalies
• Pure direct duplication (12)(q24.1-->q24.2) in a child with Marcus Gunn phenomenon and multiple congenital anomalies
• Ruptured aneurysm of the sinus of Valsalva with Wildervanck syndrome (cervico-oculo-acoustic syndrome), blepharoptosis and short stature: case report
• Two children with subtelomeric 11q deletions: a description and interpretation of their clinical presentations and molecular genetic findings