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

Original Article

Genotype and Phenotype Heterogeneity in Neonatal Diabetes: A Single Centre Experience in Turkey
  • Yasemin Denkboy Ongen
  • Erdal Eren
  • Ozgecan Demirbas
  • Elif Sobu
  • Sian Ellard
  • Omer Tarim
  • Elisa De Franco
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2020.2020.0093 PMID:32820876
Abstract
Birth Size in Neonates with Congenital Adrenal Hyperplasia due to 21-hydroxylase Deficiency
  • Helmuth G. Dörr
  • Theresa Penger
  • Andrea Albrecht
  • Michaela Marx
  • Thomas M. K. Völkl
J Clin Res Pediatr Endocrinol 2019; 11: 41-45 DOI: 10.4274/jcrpe.galenos.2018.2018.0149 PMID:30178749
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Case Report

Constitutional Growth Delay Pattern of Growth in Velo-Cardio-Facial Syndrome: Longitudinal follow up and final height of two cases
  • Serap Turan
  • Nihal Özdemir
  • Tülay Güran
  • Figen Akalin
  • Teoman Akçay
  • Canan Ayabakan
  • Yüksel Yilmaz
  • Abdullah Bereket
J Clin Res Pediatr Endocrinol 2008; 1: 43-48 DOI: 10.4008/jcrpe.v1i1.13 PMID:21318064
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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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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

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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Different Genotypes in Prader-Willi Syndrome
  • Yasemin Kendir Demirkol
  • Gülşen Akay Tayfun
  • Huriye Nursel Elçioğlu
J Clin Res Pediatr Endocrinol 2015; 7: 85-85
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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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Latest Update: 21.10.2020
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