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3. C2.2 Postzygotic activating variants in mapk pathway genes cause intracranial and extracranial vascular malformations that respond to targeted inhibition. (4th October 2017)

7. Monogenic diabetes syndromes: Locus‐specific databases for Alström, Wolfram, and Thiamine‐responsive megaloblastic anemia. Issue 7 (1st June 2017)

9. Nephroblastomatosis or Wilms tumor in a fourth patient with a somatic PIK3CA mutation. Issue 10 (18th May 2016)