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Hyperandrogenism and Skeletal Dysplasia: Evaluation of 7 Patients with PAPSS2 Gene Mutation
  • Dilek Uludağ Alkaya
  • Saliha Yılmaz
  • Olcay Evliyaoğlu
  • Kaya Bilguvar
  • Murat Günel
  • Beyhan Tüysüz
J Clin Res Pediatr Endocrinol 2017; 9: 27-27

Case Report

A Case of Thanatophoric Dysplasia Type 2: A Novel Mutation
  • Selvi Gülaşı
  • Aytuğ Atıcı
  • Yalçın Çelik
J Clin Res Pediatr Endocrinol 2015; 7: 73-76 DOI: 10.4274/jcrpe.1703 PMID:25800480
Wolcott-Rallison Syndrome Due to a Novel Mutation (R491X) in EIF2AK3 Gene
  • Ercan Mıhçı
  • Doğa Tu¨rkkahraman
  • Sian Ellard
  • Sema Akçurin
  • İffet Bircan
J Clin Res Pediatr Endocrinol 2012; 4: 101-103 DOI: 10.4274/Jcrpe.619 PMID:22672868

Review

A Review of the Principles of Radiological Assessment of Skeletal Dysplasias
  • Yasemin Alanay
  • Ralph S. Lachman
J Clin Res Pediatr Endocrinol 2011; 3: 163-178 DOI: 10.4274/jcrpe.463 PMID:22155458

Original Article

Diagnostic Use of Skeletal Survey in Suspected Skeletal Dysplasia
  • Amith Kumar Iynapillai Veeramani
  • Paul Higgins
  • Sandra Butler
  • Malcolm Donaldson
  • Elizabeth Dougan
  • Roderick Duncan
  • Victoria Murday
  • Syes Fasial Ahmed
J Clin Res Pediatr Endocrinol 2009; 1: 270-274 DOI: 10.4274/jcrpe.v1i6.270 PMID:21274308

Other

Microcephalic Osteodysplastic Primordial Dwarfism Type Two
  • Pınar İşgüven
  • Nursel Elçioğlu
J Clin Res Pediatr Endocrinol 2015; 7: 71-71

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