ISSN:1308-5727
E-ISSN:1308-5735
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ISSN:1308-5727
E-ISSN:1308-5735
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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
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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
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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
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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
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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
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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
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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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