Poster Presentations

A Novel De Novo Missense Mutation in HNF4A Resulting in Sulfonylurea-Responsive MODY
  • Sezer Acar
  • Ayhan Abacı
  • Korcan Demir
  • Taha Resid Özdemir
  • Berk Özyılmaz
  • Ece Böber
J Clin Res Pediatr Endocrinol 2017; 9: 15-15

Case Report

Long-Term Follow-Up of a Pseudohypoparathyroidism Type 1A Patient with Missense Mutation (Pro115Ser) in Exon 5
  • Şenay Savaş Erdeve
  • Merih Berberoğlu
  • Zeynep Şıklar
  • Olcay Evliyaoğlu
  • Olaf Hiort
  • Gönül Öcal
J Clin Res Pediatr Endocrinol 2010; 2: 85-88 DOI: 10.4274/jcrpe.v2i2.85 PMID:21274345
A Novel Missense Mutation in the CLPP Gene Causing Perrault Syndrome Type 3 in a Turkish Family
  • Fatma Dursun
  • Hussein Sheikh Ali Mohamoud
  • Noreen Karim
  • Muhammad Naeem
  • Musharraf Jelani
  • Heves Kırmızıbekmez
J Clin Res Pediatr Endocrinol 2016; 8: 472-477 DOI: 10.4274/jcrpe.2717 PMID:27087618

Case Report

A Novel Missense Mutation in Human Receptor Roundabout-1 (ROBO1) Gene Associated with Pituitary Stalk Interruption Syndrome
  • Ziqin Liu
  • Xiaobo Chen
J Clin Res Pediatr Endocrinol 2020; 12: 212-217 DOI: 10.4274/jcrpe.galenos.2019.2018.0309 PMID:31448886
Severe Early Onset Obesity due to a Novel Missense Mutation in Exon 3 of the Leptin Gene in an Infant from Northwest India
  • Devi Dayal
  • Keerthivasan Seetharaman
  • Inusha Panigrahi
  • Balasubramaniyan Muthuvel
  • Ashish Agarwal
J Clin Res Pediatr Endocrinol 2018; 10: 274-278 DOI: 10.4274/jcrpe.5501 PMID:29217499

Other

A Novel Missense Mutation in HSD17B3 Gene in Two 46,XY Siblings with Female External Gelitalia
  • Hale Tuhan
  • Ahmet Anik
  • Gönül Çatli
  • Serdar Ceylaner
  • Bumin Dündar
  • Ece Böber
  • Korcan Demir
  • Sezer Acar
  • Derya Erçal
  • Ayhan Abaci
J Clin Res Pediatr Endocrinol 2016; 8: 17-17
Successful Transfer from Insulin to Oral Sulphonylurea in an Infant and His Mother with Monogenic Diabetes Due to a Heterozygous Missense Mutation in the ABCC8 Gene
  • Mehmet Nuri Özbek
  • Hüseyin Demirbilek
  • Sibel Tanrıverdi
  • Ved Bhushan Arya
  • Sarah E. Flanagan
  • Sian Ellard
  • Khalid Hussain
J Clin Res Pediatr Endocrinol 2015; 7: 86-86

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