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1. An emerging role for endothelial barrier support therapy for congenital disorders of glycosylation. Issue 4 (27th February 2020)

4. Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations. Issue 3 (20th December 2013)

8. Kabuki syndrome: international consensus diagnostic criteria. Issue 2 (4th December 2018)

10. Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation. Issue 4 (24th March 2010)