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Erdal Kurnaz
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Journal Articles

Genetic Analyses in a Cohort of Pediatric Patients with Congenital Hypothyroidism Based on Congenital Hypothyroidism Consensus Guideline

Open Access
Subject Area:
Endocrinology , Women's and Children's Health
Erdal Kurnaz, Ayberk Türkyılmaz, Oğuzhan Yaralı, Ayşe Sena Dönmez, Atilla Çayır
Journal: Hormone Research in Paediatrics
Horm Res Paediatr 1–15.
https://doi.org/10.1159/000541898
Published Online: 08 October 2024
View articletitled, Genetic Analyses in a Cohort of Pediatric Patients with Congenital Hypothyroidism Based on Congenital Hypothyroidism Consensus Guideline
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Journal Articles

Genotypic Sex and Severity of the Disease Determine the Time of Clinical Presentation in Steroid 17α-Hydroxylase/17,20-Lyase Deficiency

Available to Purchase
Subject Area:
Endocrinology , Women's and Children's Health
Erdal Kurnaz, Emine Kartal Baykan, Ayberk Türkyılmaz, Oğuzhan Yaralı, Zehra Yavaş Abalı, Serap Turan, Abdullah Bereket, Atilla Çayır, Tulay Guran
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2021) 93 (9-10): 558–566.
https://doi.org/10.1159/000515079
Published Online: 29 March 2021
View articletitled, Genotypic Sex and Severity of the Disease Determine the Time of Clinical Presentation in Steroid 17α-Hydroxylase/17,20-Lyase Deficiency
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Journal Articles

Rare Cause of Infantile Hypercalcemia: A Novel Mutation in the SLC34A1 Gene

Available to Purchase
Subject Area:
Endocrinology , Women's and Children's Health
Erdal Kurnaz, Şenay Savaş Erdeve, Semra Çetinkaya, Zehra Aycan
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2019) 91 (4): 278–284.
https://doi.org/10.1159/000492899
Published Online: 21 August 2019
View articletitled, Rare Cause of Infantile Hypercalcemia: A Novel Mutation in the SLC34A1 Gene
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Journal Articles

Systemic Pseudohypoaldosteronism Type 1 due to 3 Novel Mutations in SCNN1A and SCNN1B Genes

Available to Purchase
Subject Area:
Endocrinology , Women's and Children's Health
Atilla Cayir, Yasar Demirelli, Duran Yildiz, Hasan Kahveci, Oguzhan Yarali, Erdal Kurnaz, Doğuş Vuralli, Huseyin Demirbilek
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2019) 91 (3): 175–185.
https://doi.org/10.1159/000498860
Published Online: 24 April 2019
View articletitled, Systemic Pseudohypoaldosteronism Type 1 due to 3 Novel Mutations in SCNN1A and SCNN1B Genes
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