publication venue for
- A novel 3' untranslated region mutation in the SLC29A3 gene associated with pigmentary hypertrichosis and non-autoimmune insulin-dependent diabetes mellitus syndrome. 2019
- Enteroinsular hormones in two siblings with Donohue syndrome and complete leptin deficiency. 2017
- A CACNA1D mutation in a patient with persistent hyperinsulinaemic hypoglycaemia, heart defects, and severe hypotonia. 2017
- Gastrointestinal dysmotility and pancreatic insufficiency in 2 siblings with Donohue syndrome. 2016
- Partial ABCC8 gene deletion mutations causing diazoxide-unresponsive hyperinsulinaemic hypoglycaemia. 2011
- Diabetes mellitus, exocrine pancreatic deficiency, hypertrichosis, hyperpigmentation, and chronic inflammation: confirmation of a syndrome. 2008
- Corneal nerve and nerve conduction abnormalities in children with type 1 diabetes.. 23. 2022
- Prediction of type 1 diabetes using a genetic risk model in the Diabetes Autoimmunity Study in the Young.. 19. 2017
- Serum undercarboxylated osteocalcin correlates with hemoglobin A1c in children with recently diagnosed pediatric diabetes.. 18. 2017
- Incidence, genetics, and clinical phenotype of permanent neonatal diabetes mellitus in northwest Saudi Arabia.. 13. 2011
- Four novel cases of permanent neonatal diabetes mellitus caused by homozygous mutations in the glucokinase gene.. 12. 2010
- Predictors of direct costs of diabetes care in pediatric patients with type 1 diabetes.. 12. 2010
- From congenital hyperinsulinism to diabetes mellitus: the role of pancreatic beta-cell KATP channels.. 6. 2005
- Recessive SLC19A2 mutations are a cause of neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia. 2012