publication venue for
- Congenital adrenal hyperplasia patient perception of 'disorders of sex development' nomenclature.. 2015. 2015
- Congenital hyperinsulinism: clinical and molecular characterisation of compound heterozygous ABCC8 mutation responsive to Diazoxide therapy.. 2014. 2014
- Guidelines for the Development of Comprehensive Care Centers for Congenital Adrenal Hyperplasia: Guidance from the CARES Foundation Initiative.. 2010. 2011
- A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive megaloblastic anaemia.. 2015. 2015
- Rare inheritance of Leri-Weill Syndrome due to crossover of short stature Homeobox Gene (SHOX) Deletions between X and Y Chromosomes: a case report.. 2013. 2013
- Diagnosis and treatment of hyperinsulinaemic hypoglycaemia and its implications for paediatric endocrinology. 2017