Case Report

Clinical and Molecular Genetic Analysis in Three Children with Wolfram Syndrome: A Novel WFS1 Mutation (c.2534T>A)
  • Gamze Çelmeli
  • Doga Türkkahraman
  • Yusuf Çürek
  • Jayne Houghton
  • Sema Akçurin
  • Iffet Bircan
J Clin Res Pediatr Endocrinol 2017; 9: 80-84 DOI: 10.4274/jcrpe.2894 PMID:27468121

Case Report

Inherited Deletion of 1q, Hyperparathyroidism and Signs of Y-chromosomal Influence in a Patient with Turner Syndrome
  • Alejandro F. Siller
  • Alex Shimony
  • Marwan Shinawi
  • Ina Amarillo
  • Louis P. Dehner
  • Katherine Semenkovich
  • Ana María Arbeláez
J Clin Res Pediatr Endocrinol 2019; 11: 88-93 DOI: 10.4274/jcrpe.galenos.2018.2018.0005 PMID:29739732

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