publication venue for
- Hepatocyte Nuclear Factor-4 Alfa Mutation Associated with Hyperinsulinaemic Hypoglycaemia and Atypical Renal Fanconi Syndrome: Expanding the Clinical Phenotype. 2016
- Severe Hyperinsulinaemic Hypoglycaemia in Beckwith-Wiedemann Syndrome due to Paternal Uniparental Disomy of 11p15.5 Managed with Sirolimus Therapy. 2016
- Use of Long-Acting Somatostatin Analogue (Lanreotide) in an Adolescent with Diazoxide-Responsive Congenital Hyperinsulinism and Its Psychological Impact. 2015
- Postprandial hyperinsulinaemic hypoglycaemia secondary to a congenital portosystemic shunt. 2015
- Paradoxical hypoglycaemia associated with diazoxide therapy for hyperinsulinaemic hypoglycaemia. 2013
- Two novel GATA6 mutations cause childhood-onset diabetes mellitus, pancreas malformation and congenital heart disease. 2013
- Fasting hypoglycaemia and postprandial hyperglycaemia as a prodrome of type 1 diabetes mellitus. 2012
- Severe resistance to weight gain, lack of stored triglycerides in adipose tissue, hypoglycaemia, and increased energy expenditure: a novel disorder of energy homeostasis. 2012
- Congenital hyperinsulinism due to a compound heterozygous ABCC8 mutation with spontaneous resolution at eight weeks. 2010
- Twice Daily Compared to Three Times Daily Hydrocortisone in Prepubertal Children with Congenital Adrenal Hyperplasia.. 95. 2022
- Parent-Rated Severity of Illness and Anxiety among Caregivers of Children Born with a Disorder of Sex Development Including Ambiguous Genitalia.. 90. 2018
- Genotype and Phenotype Characteristics in 22 Patients with Vitamin D-Dependent Rickets Type I.. 85. 2016
- Absence of functional LIN28B mutations in a large cohort of patients with idiopathic central precocious puberty.. 78. 2012
- Screening markers of impaired glucose tolerance in the obese pediatric population.. 73. 2010
- Coexistence of Mosaic Uniparental Isodisomy and a KCNJ11 Mutation Presenting as Diffuse Congenital Hyperinsulinism and Hemihypertrophy. 2016
- Policy decisions on endocrine disruptors should be based on science across disciplines: a response to Dietrich et al. 2013
- Growth Disturbances in Childhood Cancer Survivors. 2019
- Diabetes and Metabolic Syndrome in Survivors of Childhood Cancer. 2019
- Global Disorders of Sex Development Update since 2006: Perceptions, Approach and Care. 2016