Case Report

Novel Compound Heterozygous Variants in the LHCGR Gene in a Genetically Male Patient with Female External Genitalia
  • Mei Yan
  • Julaiti Dilihuma
  • Yanfei Luo
  • Baoerhan Reyilanmu
  • Yiping Shen
  • Maimaiti Mireguli
J Clin Res Pediatr Endocrinol 2019; 11: 211-217 DOI: 10.4274/jcrpe.galenos.2018.2018.0197 PMID:30444213
A Novel Variant c.97C>T of the Growth Hormone Releasing Hormone Receptor Gene Causes Isolated Growth Hormone Deficiency Type Ib
  • Assimina Galli-Tsinopoulou
  • Eleni P. Kotanidou
  • Aggeliki N. Kleisarchaki
  • Rivka Kauli
  • Zvi Laron
J Clin Res Pediatr Endocrinol 2018; 10: 284-288 DOI: 10.4274/jcrpe.5188 PMID:29537382
A Case of Congenital Central Hypothyroidism Caused by a Novel Variant (Gln1255Ter) in IGSF1 Gene
  • Doğa Türkkahraman
  • Nimet Karataş Torun
  • Nadide Cemre Randa
J Clin Res Pediatr Endocrinol 2021; 13: 353-357 DOI: 10.4274/jcrpe.galenos.2020.2020.0149 PMID:32772515

Original Article

The Application of Next Generation Sequencing Maturity Onset Diabetes of the Young Gene Panel in Turkish Patients from Trakya Region
  • Sinem Yalçıntepe
  • Fatma Özgüç Çömlek
  • Hakan Gürkan
  • Selma Demir
  • Emine İkbal Atlı
  • Engin Atlı
  • Damla Eker
  • Filiz Tütüncüler Kökenli
J Clin Res Pediatr Endocrinol 2021; 13: 320-331 DOI: 10.4274/jcrpe.galenos.2021.2020.0285 PMID:33565752