publication venue for
- Defining Success in the Delivery of Fertility-Related Care for Patients with Differences of Sex Development.. 99. 2024
- 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
- Screening markers of impaired glucose tolerance in the obese pediatric population.. 73. 2010
- Hepatocyte Nuclear Factor-4 Alfa Mutation Associated with Hyperinsulinaemic Hypoglycaemia and Atypical Renal Fanconi Syndrome: Expanding the Clinical Phenotype.. 86. 2016
- Coexistence of Mosaic Uniparental Isodisomy and a KCNJ11 Mutation Presenting as Diffuse Congenital Hyperinsulinism and Hemihypertrophy.. 85. 2016
- Severe Hyperinsulinaemic Hypoglycaemia in Beckwith-Wiedemann Syndrome due to Paternal Uniparental Disomy of 11p15.5 Managed with Sirolimus Therapy.. 85. 2016
- Use of Long-Acting Somatostatin Analogue (Lanreotide) in an Adolescent with Diazoxide-Responsive Congenital Hyperinsulinism and Its Psychological Impact.. 84. 2015
- Postprandial hyperinsulinaemic hypoglycaemia secondary to a congenital portosystemic shunt.. 83. 2015
- Policy decisions on endocrine disruptors should be based on science across disciplines: a response to Dietrich et al.. 80. 2013
- Paradoxical hypoglycaemia associated with diazoxide therapy for hyperinsulinaemic hypoglycaemia.. 80. 2013
- Two novel GATA6 mutations cause childhood-onset diabetes mellitus, pancreas malformation and congenital heart disease.. 79. 2013
- Fasting hypoglycaemia and postprandial hyperglycaemia as a prodrome of type 1 diabetes mellitus.. 78. 2012
- Severe resistance to weight gain, lack of stored triglycerides in adipose tissue, hypoglycaemia, and increased energy expenditure: a novel disorder of energy homeostasis.. 77. 2012
- Congenital hyperinsulinism due to a compound heterozygous ABCC8 mutation with spontaneous resolution at eight weeks.. 73. 2010
- 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