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Publications (7)
- Identification of Three Novel and One Known Mutation in the WFS1 Gene in Four Unrelated Turkish Families: The Role of Homozygosity Mapping in the Early Diagnosis Save
- A Novel SEMA3G Mutation in Two Siblings Affected by Syndromic GnRH Deficiency Save
- A novel ALMS1 homozygous mutation in two Turkish brothers with Alstrom syndrome. Save
- Genotype and Phenotype Characteristics in 22 Patients with Vitamin D-Dependent Rickets Type I Save
- A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive megaloblastic anaemia. Save
- Dipeptidyl peptidase-4 expression in pancreatic tissue from patients with congenital hyperinsulinism. Save
- Familial isolated growth hormone deficiency due to a novel homozygous missense mutation in the growth hormone releasing hormone receptor gene: clinical presentation with hypoglycemia. Save