ISSN:1308-5727
E-ISSN:1308-5735
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ISSN:1308-5727
E-ISSN:1308-5735
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Case Report
Three Patient Kindred with a Novel Phenotype of Osteogenesis Imperfecta due to a COL1A1 Variant
Nidhi Gupta
Seth W. Gregory
David R. Deyle
Peter J. Tebben
J Clin Res Pediatr Endocrinol 0; 0: 0-0
[e-Pub]
DOI: 10.4274/jcrpe.galenos.2020.2020.0012
PMID:32519829
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Syndrome of Extreme Insulin Resistance (Rabson-Mendenhall Phenotype) with Atrial Septal Defect: Clinical Presentation and Treatment Outcomes
Deep Dutta
Indira Maisnam
Sujoy Ghosh
Satinath Mukhopadhyay
Subhankar Chowdhury
J Clin Res Pediatr Endocrinol 2013; 5: 58-61
DOI: 10.4274/Jcrpe.857
PMID:23367497
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A Novel Nonsense Mutation of
PHF6
in a Female with Extended Phenotypes of Borjeson-Forssman-Lehmann Syndrome
Xia Zhang
Yanjie Fan
Xiaomin Liu
Ming-Ang Zhu
Yu Sun
Hui Yan
Yunjuan He
Xiantao Ye
Xuefan Gu
Yongguo Yu
J Clin Res Pediatr Endocrinol 2019; 11: 419-425
DOI: 10.4274/jcrpe.galenos.2019.2018.0220
PMID:30630810
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Poster Presentations
CYP11A1 Mutations Result in Various Clinical Phenotypes
Ayla Güven
Federica Buonocore
John Achermann
Tülay Güran
J Clin Res Pediatr Endocrinol 2017; 9: 2-3
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Original Research
CYP21A2 Gene Mutations in Congenital Adrenal Hyperplasia: Genotype-phenotype correlation in Turkish children
Firdevs Baş
Hülya Kayserili
Feyza Darendeliler
Oya Uyguner
Hülya Günöz
Memnune Yüksel Apak
Fatmahan Atalar
Rüveyde Bundak
Robert C. Wilson
Maria I. New
Bernd Wollnik
Nurçin Saka
J Clin Res Pediatr Endocrinol 2009; 1: 116-128
DOI: 10.4008/jcrpe.v1i3.49
PMID:21274396
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Phenotype Heterogeneity in Glucokinase–Maturity-Onset Diabetes of the Young (GCK-MODY) Patients
Anna Wedrychowicz
Ewa Tobór
Magdalena Wilk
Ewa Ziólkowska-Ledwith
Anna Rams
Katarzyna Wzorek
Barbara Sabal
Malgorzata Stelmach
Jerzy B. Starzyk
J Clin Res Pediatr Endocrinol 2017; 9: 246-252
DOI: 10.4274/jcrpe.4461
PMID:28663157
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Case Report
Early Presentation of Hyperinsulinism/Hyperammonemia Syndrome in Three Serbian Patients
Adrijan Sarajlija
Tatjana Milenkovic
Maja Djordjevic
Katarina Mitrovic
Sladjana Todorovic
Bozica Kecman
Khalid Hussain
J Clin Res Pediatr Endocrinol 2016; 8: 228-231
DOI: 10.4274/jcrpe.2436
PMID:26759084
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Phenotype, Sex of Rearing, Gender Re-Assignment, and Response to Medical Treatment in Extended Family Members with a Novel Mutation in the SRD5A2 Gene
Asma Deeb
Hana Al Suwaidi
Fakunle Ibukunoluwa
Salima Attia
J Clin Res Pediatr Endocrinol 2016; 8: 236-240
DOI: 10.4274/jcrpe.2782
PMID:27086719
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A p.(Glu809Lys) Mutation in the WFS1 Gene Associated with Wolfram-like Syndrome: A Case Report
Dagmar Prochazkova
Zuzana Hruba
Petra Konecna
Jarmila Skotakova
Lenka Fajkusova
J Clin Res Pediatr Endocrinol 2016; 8: 482-483
DOI: 10.4274/jcrpe.3021
PMID:27217304
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Other
A Rare Genetic Disorder: Partial Trisomy on Chromosome 21
Gül Yeşiltepe Mutlu
Hatip Aydın
Heves Kırmızıbekmez
Mahmut Doğru
Arda Çetinkaya
Ali Karaman
J Clin Res Pediatr Endocrinol 2015; 7: 78-78
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Phenotype-Genotype Correlations in Bardet-Biedl Syndrome Patients with Molecular Analysis
Aslı Ece Solmaz
Hüseyin Onay
Tahir Atık
Ayça Aykut
Meltem Cerrah Güneş
Özge Özalp Yüreğir
Veysel Nijat Baş
Filiz Hazan
Özgür Kırbıyık
Ferda Özkinay
J Clin Res Pediatr Endocrinol 2015; 7: 82-82
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Genotype-Phenotype Correlation of Congenital Adrenal Hyperplasia Cases Having Complex (Multiple) Mutation Detected in CYP21A2 Gene
Hilmi Bolat
Samim Özen
Hüseyin Onay
Elif Söbü
Ayhan Abacı
Hüseyin Anıl Korkmaz
Şule Can
Tahir Atik
Şükran Darcan
Ferda Özkınay
J Clin Res Pediatr Endocrinol 2015; 7: 88-88
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Genotype-Phenotype Correlation and Follow-Up Features in Cases with Congenital Hyperinsulinism (CHI)
Samim Özen
Damla Gökşen
İlkin Mecidov
Sian Ellard
Özge Altun Köroğlu
Mehmet Yalaz
Şükran Darcan
J Clin Res Pediatr Endocrinol 2015; 7: 91-91
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