Doç. Dr. Erdal KURNAZ

1. Clinical and Molecular Features of 11 Patients with Different Subtypes of Ehlers-Danlos Syndrome

Doğan Arı A. B., ARI H., Sezer A., AĞIRBAŞLI D., KURNAZ E., SAVAŞ ERDEVE Ş., et al.

Molecular Syndromology , ss.1-15, 2026 (SCI-Expanded, Scopus)

2. Surgical treatment and somatostatin experience in growth hormone-secreting pituitary macroadenoma due to novel AIP mutation

Karagöz K., Eken E. Ş., Karacan Küçükali G., Emrahoğlu M. E., Düzcan Kilimci D., KESKİN M., et al.

Journal of Pediatric Endocrinology and Metabolism , cilt.38, sa.10, ss.1103-1110, 2025 (SCI-Expanded, Scopus)

3. A Novel Premature Termination Codon Mutation in TRAPPC2 Is Associated with X-Linked Spondyloepiphyseal Dysplasia Tarda

Yasar D., Güleray Lafcı N., Karacan Küçükali G., Araslı Yılmaz A., Özkaya Dönmez B., Yazar B. T., et al.

Molecular Syndromology , cilt.16, sa.5, ss.461-468, 2025 (SCI-Expanded, Scopus)

4. Genotype, Phenotype Characteristics and Long-Term Follow-Up of Patients with Vitamin D-Dependent Rickets Type IA: A Nationwide Multi-Centre Retrospective Cross-Sectional Study

ÇAYIR A., DEMİRBİLEK H., Türkyılmaz A., DEMİRCİOĞLU S., BEREKET A., Darendeliler F., et al.

Hormone Research in Paediatrics , ss.1-9, 2025 (SCI-Expanded, Scopus)

5. DNA ligase IV deficiency identified in a patient with hypergonadotropic hypogonadism: a case report

Yasar D., Sezer A., Aytekin C., Karacan Küçükali G., Özkaya Dönmez B., Arasll Yllmaz A., et al.

Journal of Pediatric Endocrinology and Metabolism , cilt.38, sa.4, ss.415-420, 2025 (SCI-Expanded, Scopus)

6. Genetic insights and biochemical profiles in hyperlipidemia: a cohort study from Eastern Anatolia

Yarali O., BAYRAK M., Ogutlu O. B. G., KURNAZ E., Arslan S., Sebin E., et al.

Endocrine Research , cilt.50, sa.4, ss.233-243, 2025 (SCI-Expanded, Scopus)

7. 17α Hydroxylase/17,20 lyase deficiency: clinical features and genetic insights from a large Turkey cohort

ŞIKLAR Z., ÇAMTOSUN E., Bolu S., Yildiz M., Akinci A., BAŞ F., et al.

Endocrine , cilt.85, sa.3, ss.1407-1416, 2024 (SCI-Expanded, Scopus)

8. A major health problem facing immigrant children: Nutritional rickets

KURNAZ E., ÇETİNKAYA S., Elmaoǧullarl S., Arasll Yllmaz A., MURATOĞLU ŞAHİN N., KESKİN M., et al.

Journal of Pediatric Endocrinology and Metabolism , cilt.35, sa.2, ss.223-229, 2022 (SCI-Expanded, Scopus)

9. Evaluation of the pathophysiological role of Fetuin A levels in adolescents with polycystic ovary syndrome

BAYRAMOĞLU E., ÇETİNKAYA S., Özalkak S., KURNAZ E., Demirci G., ÖZTÜRK H. S., et al.

Journal of Pediatric Endocrinology and Metabolism , cilt.34, sa.7, ss.911-916, 2021 (SCI-Expanded, Scopus)

10. Serum Fetuin-A and Insulin Levels in Classic Congenital Adrenal Hyperplasia

KURNAZ E., ÇETİNKAYA S., Özalkak Ş., BAYRAMOĞLU E., Demirci G., ÖZTÜRK H. S., et al.

Hormone and Metabolic Research , cilt.52, sa.9, ss.654-659, 2020 (SCI-Expanded, Scopus)

11. Functional assessment of variants associated with Wolfram syndrome

Riachi M., Yilmaz S., KURNAZ E., Aycan Z., ÇETİNKAYA S., Tranebjærg L., et al.

Human Molecular Genetics , cilt.28, sa.22, ss.3815-3824, 2019 (SCI-Expanded, Scopus)

12. Contribution of functionally assessed GHRHR mutations to idiopathic isolated growth hormone deficiency in patients without GH1 mutations

Cohen E., Belkacem S., Fedala S., Collot N., Khallouf E., Dastot F., et al.

Human Mutation , cilt.40, sa.11, ss.2033-2043, 2019 (SCI-Expanded, Scopus)

13. Antimüllerian hormone levels of infants with premature thelarche

MURATOĞLU ŞAHİN N., BAYRAMOĞLU E., Özcan H. N., KURNAZ E., KESKİN M., SAVAŞ ERDEVE Ş., et al.

JCRPE Journal of Clinical Research in Pediatric Endocrinology , cilt.11, sa.3, ss.287-292, 2019 (SCI-Expanded, Scopus, TRDizin)

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

KURNAZ E., SAVAŞ ERDEVE Ş., ÇETİNKAYA S., Aycan Z.

Hormone Research in Paediatrics , cilt.91, sa.4, ss.278-284, 2019 (SCI-Expanded, Scopus)

15. Experience of intravenous calcium treatment and long-term responses to treatment in a patient with hereditary Vitamin D-resistant rickets resulting from a novel mutation

BAYRAMOĞLU E., SAVAŞ ERDEVE Ş., Shi Y., KESKİN M., ÇETİNKAYA S., KURNAZ E., et al.

Journal of Pediatric Endocrinology and Metabolism , cilt.32, sa.6, ss.647-651, 2019 (SCI-Expanded, Scopus)

16. Detection of the SRY gene in patients with Turner Syndrome

KURNAZ E., ÇETİNKAYA S., SAVAŞ ERDEVE Ş., Aycan Z.

Journal of Gynecology Obstetrics and Human Reproduction , cilt.48, sa.4, ss.265-267, 2019 (Scopus)

17. Congenital long-QT syndrome in type 1 diabetes: A unique association

KURNAZ E., SAVAŞ ERDEVE Ş., ÖZGÜR S., KESKİN M., Özbudak P., ÇETİNKAYA S., et al.

Turkish Journal of Pediatrics , cilt.61, sa.5, ss.791-793, 2019 (SCI-Expanded, Scopus, TRDizin)

18. Near final height in patients with idiopathic growth hormone deficiency: A single-centre experience

KURNAZ E., ÇETİNKAYA S., Aycan Z.

Journal of Paediatrics and Child Health , cilt.54, sa.11, ss.1221-1226, 2018 (SCI-Expanded, Scopus)

19. SHOX gene deletion screening by FISH in children with short stature and Madelung deformity and their characteristics

KURNAZ E., SAVAŞ ERDEVE Ş., ÇETİNKAYA S., Aycan Z.

Journal of Pediatric Endocrinology and Metabolism , cilt.31, sa.11, ss.1273-1278, 2018 (SCI-Expanded, Scopus)

20. Follow-up in children with non-obese and non-autoimmune subclinical hypothyroidism

Ergin Z., SAVAŞ ERDEVE Ş., KURNAZ E., ÇETİNKAYA S., Aycan Z.

Journal of Pediatric Endocrinology and Metabolism , cilt.31, sa.10, ss.1133-1138, 2018 (SCI-Expanded, Scopus)

21. Investigation of MKRN3 mutation in patients with familial central precocious puberty

Aycan Z., SAVAŞ ERDEVE Ş., ÇETİNKAYA S., KURNAZ E., KESKİN M., MURATOĞLU ŞAHİN N., et al.

JCRPE Journal of Clinical Research in Pediatric Endocrinology , cilt.10, sa.3, ss.223-229, 2018 (SCI-Expanded, Scopus, TRDizin)

22. Sever’s disease in a patient receiving growth hormone with no causative relation

KURNAZ E., SAVAŞ ERDEVE Ş., Aycan Z., ÇETİNKAYA S.

Journal of Clinical and Diagnostic Research , cilt.12, sa.3, 2018 (Scopus)

23. Clinical and genetic characterisation of a series of patients with triple A syndrome

KURNAZ E., Duminuco P., Aycan Z., SAVAŞ ERDEVE Ş., MURATOĞLU ŞAHİN N., KESKİN M., et al.

European Journal of Pediatrics , cilt.177, sa.3, ss.363-369, 2018 (SCI-Expanded, Scopus)

24. A patient with proopiomelanocortin deficiency: An increasingly important diagnosis to make

ÇETİNKAYA S., GÜRAN T., KURNAZ E., KESKİN M., Sağsak E., SAVAŞ ERDEVE Ş., et al.

JCRPE Journal of Clinical Research in Pediatric Endocrinology , cilt.10, sa.1, ss.68-73, 2018 (SCI-Expanded, Scopus, TRDizin)

25. A rare cause of short stature: 3M syndrome in a patient with novel mutation in OBSL1 gene

KESKİN M., MURATOĞLU ŞAHİN N., KURNAZ E., BAYRAMOĞLU E., SAVAŞ ERDEVE Ş., Aycan Z., et al.

JCRPE Journal of Clinical Research in Pediatric Endocrinology , cilt.9, sa.1, ss.91-94, 2017 (SCI-Expanded, Scopus, TRDizin)

26. Conventional insulin pump therapy in two neonatal diabetes patients harboring the homozygous PTF1A enhancer mutation: Need for a novel approach for the management of neonatal diabetes

KURNAZ E., Aycan Z., Yıldırım N., ÇETİNKAYA S.

Turkish Journal of Pediatrics , cilt.59, sa.4, ss.458-462, 2017 (SCI-Expanded, Scopus, TRDizin)

27. Treatment experience and long-term follow-up data in two severe neonatal hyperparathyroidism cases

SAVAŞ ERDEVE Ş., Sagsak E., KESKİN M., Magdelaine C., Lienhardt-Roussie A., KURNAZ E., et al.

Journal of Pediatric Endocrinology and Metabolism , cilt.29, sa.9, ss.1103-1110, 2016 (SCI-Expanded, Scopus)

28. Is chromosomal study necessary for girls with inguinal hernia?

KURNAZ E., SAVAŞ ERDEVE Ş., Aycan Z.

Journal of Clinical and Diagnostic Research , cilt.10, sa.8, 2016 (Scopus)

29. Gonadoblastoma in a patient with 46, XY complete gonadal dysgenesis

KESKİN M., SAVAŞ ERDEVE Ş., KURNAZ E., ÇETİNKAYA S., KARAMAN A., Apaydın S., et al.

Turkish Journal of Pediatrics , cilt.58, sa.5, ss.538-540, 2016 (SCI-Expanded, Scopus, TRDizin)

30. A case with atrophic autoimmune thyroiditis-related hypothyroidism causing multisystem involvement in early childhood

KURNAZ E., SAVAŞ ERDEVE Ş., KESKİN M., Doğan V., ÇETİNKAYA S., Aycan Z.

Turkish Journal of Pediatrics , cilt.58, sa.4, ss.446-451, 2016 (SCI-Expanded, Scopus, TRDizin)

31. The first childhood case with coexisting hashimoto thyroiditis, vitiligo and autoimmune hepatitis

KESKİN M., SAVAŞ ERDEVE Ş., Özbay-Hoşnut F., KURNAZ E., ÇETİNKAYA S., Aycan Z.

Turkish Journal of Pediatrics , cilt.58, sa.4, ss.432-435, 2016 (SCI-Expanded, Scopus, TRDizin)

Yayınlar & Eserler

Yayın

Yayın (WoS)

Yayın (Scopus)

H-İndeks (WoS)

Atıf (Scopus)

H-İndeks (Scopus)

Atıf (TrDizin)

H-İndeks (TrDizin)

Atıf (Diğer Toplam)

Tez Danışmanlığı

Açık Erişim