Prof. HÜSEYİN DEMİRBİLEK

1. Clinical Characteristics and Genotype-phenotype Correlation in Turkish Patients with a Diagnosis of Resistance to Thyroid Hormone Beta

Buyukyilmaz G., Çavdarlı B., Koca S. b., Toksoy K., topaloglu o., Aydın C., et al.

Journal of Clinical Research in Pediatric Endocrinology , vol.17, no.2, pp.191-201, 2025 (SCI-Expanded, Scopus, TRDizin)

2. **Non-coding cis-regulatory variants in HK1 cause congenital hyperinsulinism with variable disease severity**

Bennett J. J., Saint-Martin C., Neumann B., Mannisto J. M. E., Houghton J. A. L., Empting S., et al.

GENOME MEDICINE , no.1, 2025 (SCI-Expanded, Scopus)

3. Phenotypes Linked to Duplication Upstream of SOX9: New Insights Into Presentation and Diagnosis

Unal E., Tekmenuray-Unal A., Cayir A., Papatya Cakir E. D., Beyazit N., Kolbasi B., et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM , 2025 (SCI-Expanded, Scopus)

4. Three Birds With One Stone: Successful Management Of Peritonitis Induced Pediatric Septic Shock With Peritoneal Washing

DEMİR O. O., Erdemir G. N., KESİCİ S., BOYBEYİ TÜRER Ö., ÖZSÜREKCİ Y., DEMİRBİLEK H.

KLINISCHE PADIATRIE , 2024 (SCI-Expanded, Scopus)

5. Author's reply "Comment on diagnostic utility of the average peak LH levels measured during GnRH stimulation test"

Koca S. B., DEMİRBİLEK H.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , vol.37, pp.988-989, 2024 (SCI-Expanded, Scopus)

6. Evaluation of clinical characteristics and genotype-phenotype correlation of resistance to thyroid hormone receptor Beta (RTHβ) due to THRβ gene mutations

Gulal G., Cavdarli B. E., Koca S. B., Adiguzel K. T., TOPALOĞLU O., AYDIN C., et al.

HORMONE RESEARCH IN PAEDIATRICS , pp.530-531, 2024 (SCI-Expanded, Scopus)

7. Genotype and phenotype characteristics and long-term follow-up of patients with Vitamin D Dependent Rickets Type II (VDDRII): A nationwide multicenter retrospective cross-sectional study

Cayir A., DEMİRCİOĞLU S., EKLİOĞLU B. S., BAYRAMOĞLU E., Unal E., Yildiz M., et al.

HORMONE RESEARCH IN PAEDIATRICS , pp.483-484, 2024 (SCI-Expanded, Scopus)

8. **Phenotypes linked to duplication upstream of SOX9: New insights into presentation and diagnosis**

Unal E., Unal A. T., Cayir A., Cakir E. D. P., Beyazit N., Kolbasi B., et al.

HORMONE RESEARCH IN PAEDIATRICS , pp.203, 2024 (SCI-Expanded, Scopus)

9. Diagnostic utility of the average peak LH levels measured during GnRH stimulation test

Koca S. B., DEMİRBİLEK H.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , vol.37, no.9, pp.773-778, 2024 (SCI-Expanded, Scopus)

10. Type A insulin resistance syndrome due to a novel heterozygous c.3486_3503del (p.Arg1163_ Ala1168del) INSR gene mutation in an adolescent girl and her mother

Koca S. B., Kulali M. A., Göğüş B., DEMİRBİLEK H.

Archives of Endocrinology and Metabolism , vol.68, 2024 (SCI-Expanded, Scopus)

11. **Severe Early-Onset Obesity and Diabetic Ketoacidosis due to a Novel Homozygous c.169C>T p.Arg57Variant in CEP19* Gene**

Cayir A., TÜRKYILMAZ A., Rabenstein H., Guven F., Karagoz Y. S., VURALLI KARAOĞLAN D., et al.

MOLECULAR SYNDROMOLOGY , vol.15, no.2, pp.104-113, 2023 (SCI-Expanded, Scopus) Sustainable Development

12. Evaluation Of Long-term Height and Pubertal Outcome Of Boys Presented With Delayed Puberty Due To Constitutional Delay In Growth And Puberty And Isolated Hypogonadotropic Hypogonadism

DOĞAN Ö., VURALLI KARAOĞLAN D., DEMİRBİLEK H.

HORMONE RESEARCH IN PAEDIATRICS , pp.387, 2023 (SCI-Expanded, Scopus)

13. Clinical characteristics, molecular genetics analysis results and long-term follow-up of a large cohort of congenital hyperinsulinism from Turkey: A nationwide cross-sectional study

DEMİRBİLEK H., Ozbek M. N., Yildiz M., Houghton J. L. A., Onal H., GÜRBÜZ F., et al.

HORMONE RESEARCH IN PAEDIATRICS , pp.589, 2023 (SCI-Expanded, Scopus)

14. **Metreleptin Treatment in a Boy with Congenital Generalized Lipodystrophy due to Homozygous c.465_468delGACT (p.T156Rfs*8) Mutation in the BSCL2 Gene: Results From the First-year**

Özalkak Ş., Demiral M., Ünal E., Taş F. F., Onay H., DEMİRBİLEK H., et al.

Journal of clinical research in pediatric endocrinology , vol.15, no.3, pp.329-333, 2023 (SCI-Expanded, Scopus, TRDizin)

15. Serum kisspeptin, neurokinin B and inhibin B levels can be used as alternative parameters to distinguish idiopathic CPP from premature thelarche in the early stages of puberty

Vuralli D., Ciftci N., DEMİRBİLEK H.

Clinical Endocrinology , vol.98, no.6, pp.788-795, 2023 (SCI-Expanded, Scopus)

16. Managing Severe Hypoglycaemia in Patients with Diabetes: Current Challenges and Emerging Therapies

DEMİRBİLEK H., Vuralli D., Haris B., Hussain K.

Diabetes, Metabolic Syndrome and Obesity: Targets and Therapy , vol.16, pp.259-273, 2023 (SCI-Expanded, Scopus)

17. Incidence and Risk Factors of Hyperglycemia in Severe Multisystem Inflammatory Syndrome in Children: A Retrospective Case-Control Study

SARITAŞ NAKİP Ö., KESİCİ S., BOZKURT B. S., ÖZSÜREKCİ Y., DEMİRBİLEK H., BAYRAKCİ B.

Journal of Pediatric Infectious Diseases , vol.18, no.1, pp.31-37, 2023 (SCI-Expanded, Scopus)

18. Demographic, Clinical, Hormonal And Genetic Characteristics Of Children And Adolescents With Congenital Adrenal Hyperplasia Due To 11-Beta Hydroxylase Deficiency

Kendirci H. N. P., BAYRAMOĞLU E., Aycan Z., HATİPOĞLU N., Ucakturk S. A., Ozalkak S., et al.

HORMONE RESEARCH IN PAEDIATRICS , vol.95, no.SUPPL 2, pp.119-120, 2022 (SCI-Expanded, Scopus)

19. **Severe early-onset obesity and diabetic ketoacidosis due to a novel homozygous c.169C > T p.Arg57*mutation in CEP19 gene**

Cayir A., Turkyilmaz A., Rabenstein H., GÜVEN F., Karagoz Y. S., Wabitsch M., et al.

HORMONE RESEARCH IN PAEDIATRICS , vol.95, no.SUPPL 2, pp.216, 2022 (SCI-Expanded, Scopus)

20. Genotype, phenotype characteristics and long-term follow-up of patients with Vitamin D Dependent Rickets Type IA (VDDR1a): A nationwide multicentre retrospective cross-sectional study

Cayir A., DEMİRBİLEK H., TÜRKYILMAZ A., DEMİRCİOĞLU S., BEREKET A., Darendeliler F., et al.

HORMONE RESEARCH IN PAEDIATRICS , vol.95, no.SUPPL 2, pp.100, 2022 (SCI-Expanded, Scopus)

21. Serum kisspeptin, neurokinin B and inhibin B levels can be used as an auxiliary parameter to distinguish idiopathic CPP from premature thelarche in the early stages of puberty

VURALLI KARAOĞLAN D., Ciftci N., DEMİRBİLEK H.

HORMONE RESEARCH IN PAEDIATRICS , vol.95, no.SUPPL 2, pp.62-63, 2022 (SCI-Expanded, Scopus)

22. Results from a Global, Multi-Center, Phase 2b Study (RIZE) in Congenital Hyperinsulinism: Characterization of a High Unmet Treatment Need and Glycemic Response to RZ358

DEMİRBİLEK H., Melikyan M., Galcheva S., Dastamani A., Thornton P., De Leon D., et al.

HORMONE RESEARCH IN PAEDIATRICS , vol.95, no.SUPPL 2, pp.32-33, 2022 (SCI-Expanded, Scopus)

23. The effects of the covid-19 pandemic on puberty: a cross-sectional, multicenter study from Turkey

Mutlu G. Y., Eviz E., Haliloglu B., Kirmizibekmez H., Dursun F., Ozalkak S., et al.

ITALIAN JOURNAL OF PEDIATRICS , vol.48, no.1, 2022 (SCI-Expanded, Scopus)

24. RZ358 in Congenital Hyperinsulinism: Results from a Multi-Center, Global, Phase 2b Study (RIZE)

Thornton P., DEMİRBİLEK H., Christesen H. T., Melikian M., Galcheva S., Dastamani A., et al.

HORMONE RESEARCH IN PAEDIATRICS , vol.95, no.SUPPL 1, pp.265-266, 2022 (SCI-Expanded, Scopus)

25. Revisiting the Annual Incidence of Type 1 Diabetes Mellitus in Children from the Southeastern Anatolian Region of Turkey: A Regional Report

Ozalkak S., Yildirim R., Tunc S., Unal E., Tas F. F., DEMİRBİLEK H., et al.

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY , vol.14, no.2, pp.172-178, 2022 (SCI-Expanded, Scopus, TRDizin)

26. Long-term follow-up of transient neonatal diabetes mellitus due to a novel homozygous c.7734C>T (p.R228C) mutation in ZFP57 gene: relapse at prepubertal age

Kontbay T., Atar M., DEMİRBİLEK H.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , vol.35, pp.695-698, 2022 (SCI-Expanded, Scopus)

27. Clinical and genetic heterogeneity of HNF4A/HNF1A mutations in a multicentre paediatric cohort with hyperinsulinaemic hypoglycaemia

McGlacken-Byrne S. M., Mohammad J. K., Conlon N., Gubaeva D., Siersbaek J., Schou A. J., et al.

EUROPEAN JOURNAL OF ENDOCRINOLOGY , vol.186, no.4, pp.417-427, 2022 (SCI-Expanded, Scopus)

28. Systematic genetic testing for recessively inherited monogenic diabetes: a cross-sectional study in paediatric diabetes clinics

Patel K. A., Ozbek M. N., Yildiz M., GÜRAN T., Kocyigit C., ACAR S., et al.

DIABETOLOGIA , vol.65, no.2, pp.336-342, 2022 (SCI-Expanded, Scopus)

29. Clinical, biochemical, and echocardiographic evaluation of neonates with vitamin D deficiency due to maternal vitamin D deficiency

Cayir A., Akyigit A., Gullu U. U., Kahveci H., Yildiz D., Kurnaz E., et al.

CARDIOLOGY IN THE YOUNG , vol.32, no.1, pp.88-93, 2022 (SCI-Expanded, Scopus)

30. Continuous Hepatogonodal and Splenogonogal Fusion: A Rare Cause of Bilateral Infra-Abdominal Testis in an 18-Month-Old Boy

Durmus G., BOYBEYİ TÜRER Ö., ÖZCAN H. N., GÖZMEN O., DEMİRBİLEK H., SOYER T.

EUROPEAN JOURNAL OF PEDIATRIC SURGERY REPORTS , vol.10, no.01, 2022 (ESCI)

31. A rare and preventable aetiology of neurodevelopmental delay and epilepsy: familial glucocorticoid deficiency

Ozbek M. N., Demiral M., Unal E., Karasin N. D., Baran R. T., DEMİRBİLEK H.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , vol.34, no.11, pp.1463-1468, 2021 (SCI-Expanded, Scopus)

32. Clinical and Hormonal Profiles Correlate With Molecular Characteristics in Patients With 11 beta-Hydroxylase Deficiency

YILDIZ M., Isik E., Abali Z. Y., KESKİN M., Ozbek M. N., Bas F., et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM , vol.106, no.9, 2021 (SCI-Expanded, Scopus)

33. Frequency of Celiac Disease and Spontaneous Normalization Rate of Celiac Serology in Children and Adolescent Patients with Type 1 Diabetes.

Unal E., Demiral M., Baysal B., Agın M., Devecioğlu E., Demirbilek H., et al.

Journal of clinical research in pediatric endocrinology , vol.13, pp.72-79, 2021 (SCI-Expanded, Scopus, TRDizin)

34. **Identification of Three Novel and One Known Mutation in the WFS1 Gene in Four Unrelated Turkish Families; the Role of Homozygosity Mapping in the Early Diagnosis.**

Sherif M., Demirbilek H., Cayir A., Tahir S., Cavdarli B., Demiral M., et al.

Journal of clinical research in pediatric endocrinology , vol.13, pp.34-43, 2021 (SCI-Expanded, Scopus, TRDizin)

35. INTENSIVE PHYSICAL EXERCISE AND KETOSIS IN TYPE 1 DIABETES: LITERATURE REVIEW ON A CASE AFTER COVID-19 QUARANTINE

Civil T., ÖZEN G., DEMİRBİLEK H.

INTERNATIONAL JOURNAL OF LIFE SCIENCE AND PHARMA RESEARCH , pp.276-280, 2021 (ESCI) Sustainable Development

36. CORRELATION OF STRENGTH, MOBILITY AND BONE MINERAL DENSITY IN DUCHENNE MUSCULAR DYSTROPHY

Baran R. T., Kutluk M. G., Toraman N. F., Filiz M. B., Filiz S., DEMİRBİLEK H.

ACTA MEDICA MEDITERRANEA , vol.37, no.6, pp.3647-3654, 2021 (SCI-Expanded, Scopus)

37. Clinical characteristics and molecular genetic analysis of a cohort with idiopathic congenital hypogonadism

Turkyilmaz A., Cayir A., Yarali O., Kurnaz E., Baykan E. K., Ates E. A., et al.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , vol.34, no.6, pp.771-780, 2021 (SCI-Expanded, Scopus)

38. Clinical Characteristics and Long-term Follow-up of Patients with Diabetes Due To PTF1A Enhancer Mutations.

Demirbilek H., Cayir A., Flanagan S., Yıldırım R., Kor Y., Gurbuz F., et al.

The Journal of clinical endocrinology and metabolism , vol.105, 2020 (SCI-Expanded, Scopus)

39. Neonatal diabetes due to homozygousINSgene promoter mutations: Highly variable phenotype, remission and early relapse during the first 3 years of life

Demiral M., DEMİRBİLEK H., Celik K., Okur N., Hussain K., Ozbek M. N.

PEDIATRIC DIABETES , vol.21, no.7, pp.1169-1175, 2020 (SCI-Expanded, Scopus) Sustainable Development

40. Validity of Six Month L-Thyroxine Dose for Differentiation of Transient or Permanent Congenital Hypothyroidism

Asena M., Demiral M., Unal E., Ocal M., DEMİRBİLEK H., Ozbek M. N.

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY , vol.12, no.3, pp.275-280, 2020 (SCI-Expanded, Scopus, TRDizin)

41. Ectopic Posterior Pituitary, Polydactyly, Midfacial Hypoplasia and Multiple Pituitary Hormone Deficiency due to a Novel Heterozygous IVS11-2A > C(c.1957-2A > C) Mutation in the GLI2 Gene

Demiral M., DEMİRBİLEK H., Unal E., Durmaz C. D., Ceylaner S., Ozbek M. N.

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY , vol.12, no.3, pp.319-328, 2020 (SCI-Expanded, Scopus, TRDizin)

42. Evaluation of the Final Adult Height and Its Determinants in Patients with Growth Hormone Deficiency: A Single-centre Experience from the South-Eastern Region of Turkey

Demiral M., Unal E., Baysal B., Baran R. T., DEMİRBİLEK H., Ozbek M. N.

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY , vol.12, no.3, pp.295-302, 2020 (SCI-Expanded, Scopus, TRDizin)

43. A novel diagnostic tool for the evaluation of hypothalamic-pituitary region and diagnosis of growth hormone deficiency: pons ratio

Demiral M., Karaca M. S., Unal E., Baysal B., Baran R. T., DEMİRBİLEK H., et al.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , vol.33, no.6, pp.735-742, 2020 (SCI-Expanded, Scopus)

44. Cystoscopy-Guided Laparoscopic Excision of Prostatic Utricle: Report of a Case

Boybeyi-Turer O., DEMİRBİLEK H., SOYER T.

EUROPEAN JOURNAL OF PEDIATRIC SURGERY REPORTS , vol.8, no.1, pp.35-38, 2020 (ESCI)

45. Ectopic posterior pituitary, polydactyly, midfacial hypoplasia and panhypopituitarism due to a novel heterozygous IVS 11-2AC(c.1957-2AC) mutation in GLI2 gene

Demiral M., Unal E., Kardas B., DEMİRBİLEK H., Ozbek M. N.

HORMONE RESEARCH IN PAEDIATRICS , vol.91, pp.173, 2019 (SCI-Expanded, Scopus)

46. Clinical characteristics and long term follow up of 17 patients with permanent neonatal diabetes due to PTF1A distal enhancer mutations

DEMİRBİLEK H., Cayir A., DeFranco E., Kor Y., Yildiz M., Yildirim R., et al.

HORMONE RESEARCH IN PAEDIATRICS , vol.91, pp.230, 2019 (SCI-Expanded, Scopus) Sustainable Development

47. Clinical, biochemical and echocardiographic evaluation of patients with congenital rickets due to maternal vitamin D deficiency

Cayir A., Akyigit A., Gullu U. U., Kahveci H., Yildiz D., Kurnaz E., et al.

HORMONE RESEARCH IN PAEDIATRICS , vol.91, pp.163, 2019 (SCI-Expanded, Scopus)

48. A novel approach for the evaluation of hypothalamic-pituitary region in patients with growth hormone deficiency: Pons ratio

Demiral M., Karaca M. S., Unal E., Baysal B., Baran R. T., DEMİRBİLEK H., et al.

HORMONE RESEARCH IN PAEDIATRICS , vol.91, pp.253-254, 2019 (SCI-Expanded, Scopus)

49. Ion Transporters, Channelopathies, and Glucose Disorders

DEMİRBİLEK H., Galcheva S., VURALLI KARAOĞLAN D., Al-Khawaga S., Hussain K.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES , vol.20, no.10, 2019 (SCI-Expanded, Scopus)

50. Evaluation of intraocular pressure and retinal nerve fiber layer, retinal ganglion cell, central macular thickness, and choroidal thickness using optical coherence tomography in obese children and healthy controls

Baran R. T., Baran S. O., Toraman N. F., Filiz S., DEMİRBİLEK H.

NIGERIAN JOURNAL OF CLINICAL PRACTICE , vol.22, no.4, pp.539-545, 2019 (SCI-Expanded, Scopus) Sustainable Development

51. Congenital Hyperinsulinism and Evolution to Sulfonylurea-responsive Diabetes Later in Life due to a Novel Homozygous p.L171F ABCC8 Mutation

Isik E., DEMİRBİLEK H., Houghton J. A., Ellard S., Flanagan S. E., Hussain K.

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY , vol.11, no.1, pp.82-87, 2019 (SCI-Expanded, Scopus, TRDizin)

52. The Genetic and Molecular Mechanisms of Congenital Hyperinsulinism

Galcheva S., DEMİRBİLEK H., Al-Khawaga S., Hussain K.

FRONTIERS IN ENDOCRINOLOGY , vol.10, 2019 (SCI-Expanded, Scopus)

53. A Distinct Clinical Phenotype in Two Siblings with X-linked Adrenoleukodystrophy

Ozdemir Kutbay N., Ozbek M. N., Sarer Yurekli B., DEMİRBİLEK H.

NEUROENDOCRINOLOGY LETTERS , vol.40, no.1, pp.36-40, 2019 (SCI-Expanded, Scopus)

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

Cayir A., Demirelli Y., Yildiz D., Kahveci H., Yarali O., Kurnaz E., et al.

HORMONE RESEARCH IN PAEDIATRICS , vol.91, no.3, pp.175-185, 2019 (SCI-Expanded, Scopus)

55. TUBULOINTERSTITIAL NEPHRITIS AND IGA NEPHROPATHY ASSOCIATED WITH VALPROATE USE: A CASE REPORT

Celegen K., Saglam A., Koca S. B., DEMİRBİLEK H., DÜZOVA A.

PEDIATRIC NEPHROLOGY , vol.33, no.10, pp.1974, 2018 (SCI-Expanded, Scopus)

56. Evaluation of psychological characteristics of Turkish children with type 1 diabetes mellitus from two demographically and geographically distinct regions

Baran R. T., Surer-Adanir A., Karakurt M. N., Dundar M., Aydin M., Ozbek M. N., et al.

TURKISH JOURNAL OF PEDIATRICS , vol.60, no.5, pp.554-561, 2018 (SCI-Expanded, Scopus, TRDizin)

57. Permanent neonatal diabetes mellitus and neurological abnormalities due to a novel homozygous missense mutation in NEUROD1

DEMİRBİLEK H., HATİPOĞLU N., Gul U., Tatli Z. U., Ellard S., Flanagan S. E., et al.

PEDIATRIC DIABETES , vol.19, no.5, pp.898-904, 2018 (SCI-Expanded, Scopus) Sustainable Development

58. Reversible Dilated Cardiomyopathy Due to Combination of Vitamin D-Deficient Rickets and Primary Hypomagnesemia in an 11-Month-Old Infant

Yazici M. U., KESİCİ S., Demirbilek H., Tanyildiz M., Gumustas M., BAYRAKCİ B.

JOURNAL OF PEDIATRIC INTENSIVE CARE , vol.7, no.1, pp.46-48, 2018 (ESCI)

59. Clinical Characterstics, Genotype-phenotype Correlations and Follow Up of Patients with Congenital Hyperinsulinaemic Hypoglycaemia; Single Center Experience from a Southeastern City of Turkey

Ozbek M. N., DEMİRBİLEK H., Haliloglu B., Demiral M., Baran R. T., Ellard S., et al.

HORMONE RESEARCH IN PAEDIATRICS , vol.90, pp.358, 2018 (SCI-Expanded, Scopus)

60. Presenting Features, Clinical Characteristics and Follow Up of Familial Isolated Glucocorticoid Deficiency (FGD) Due to Mutations in MC2R and MRAP Genes

Ozbek M. N., Karasin N. D., DEMİRBİLEK H., Demiral M., Baran R. T., GÜRAN T.

HORMONE RESEARCH IN PAEDIATRICS , vol.90, pp.161-162, 2018 (SCI-Expanded, Scopus)

61. A rare clinical condition in childhood comorbidity of idiopathic hypoparathyroidism and basal ganglia calcification: Fahr disease

Baran R. T., DEMİRBİLEK H., Baran S., Parlak M., Parlak E.

CUKUROVA MEDICAL JOURNAL , vol.43, no.1, pp.231-234, 2018 (ESCI, TRDizin)

62. Systemic Pseudohypoaldosteronism Type 1 due to 3 Novel Mutations in SCNN1A and SCNN1B Genes; Report of 3 Cases

Cayir A., Demirelli Y., Yildiz D., Kahveci H., Yarali O., Karaoglan D. V., et al.

HORMONE RESEARCH IN PAEDIATRICS , vol.90, pp.366-367, 2018 (SCI-Expanded, Scopus)

63. Comprehensive Genetic Testing Shows One in Five Children with Diabetes and Non-Autoimmune Extra-Pancreatic Features Have Monogenic Aetiology

Patel K. A., Colclough K., Ozbek M. N., Yildiz M., GÜRAN T., Kocyigit C., et al.

HORMONE RESEARCH IN PAEDIATRICS , vol.90, pp.213, 2018 (SCI-Expanded, Scopus) Sustainable Development

64. Growth Hormon Deficiency in Identical Twins with Gitelman Syndrome Due to Compound Heterozygous Mutation (p.R80fs*35/p.K957X) of the SLC12A3 Gene and the Evaluation of the Response to Growth Hormone Replacement Therapy

Yaman B., Celegen K., Korkmaz E., Lafci N., Balik Z., DEMİRBİLEK H., et al.

HORMONE RESEARCH IN PAEDIATRICS , vol.90, pp.461-462, 2018 (SCI-Expanded, Scopus)

65. Evaluation of Intraocular Pressure and Retinal Nerve Fiber Layer, Retinal Ganglion Cell, Central Macular Thickness and Choroidal Thickness Using Optical Coherence Tomography in Obese Children and Healthy Controls

Baran R. T., Baran S., Toraman N. F., Filiz M. B., Filiz S., DEMİRBİLEK H.

HORMONE RESEARCH IN PAEDIATRICS , vol.90, pp.305, 2018 (SCI-Expanded, Scopus)

66. Congenital Hyperinsulinism: Diagnosis and Treatment Update

DEMİRBİLEK H., Hussain K.

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY , vol.9, pp.69-87, 2017 (SCI-Expanded, Scopus, TRDizin)

67. Hyperinsulinaemic hypoglycaemia in children and adults

Shah P., Rahman S. A., DEMİRBİLEK H., Guemes M., Hussain K.

LANCET DIABETES & ENDOCRINOLOGY , vol.5, no.9, pp.729-742, 2017 (SCI-Expanded, Scopus) Sustainable Development

68. Diagnosis and treatment of hyperinsulinaemic hypoglycaemia and its implications for paediatric endocrinology

DEMİRBİLEK H., Rahman S. A., Buyukyilmaz G. G., Hussain K.

INTERNATIONAL JOURNAL OF PEDIATRIC ENDOCRINOLOGY , 2017 (Peer-Reviewed Journal)

69. Evaluation of vitamin D levels in patients with acute rheumatic fever

Onan S. H., Demirbilek H., Aldudak B., Bilici M., Demir F., Yilmazer M. M.

ANATOLIAN JOURNAL OF CARDIOLOGY , vol.18, no.1, pp.75-76, 2017 (SCI-Expanded, Scopus, TRDizin)

70. Clinical and biochemical characteristics and bone mineral density of homozygous, compound heterozygous and heterozygous carriers of three novel IGFALS mutations

Isik E., Haliloglu B., van Doorn J., DEMİRBİLEK H., Scheltinga S. A., Losekoot M., et al.

EUROPEAN JOURNAL OF ENDOCRINOLOGY , vol.176, no.6, pp.657-667, 2017 (SCI-Expanded, Scopus)

71. PSYCHOMETRIC ANALYSIS USING CHILD BEHAVIOR CHECKLIST (CBCL) IN TYPE 1 DIABETIC TURKISH CHILDREN FROM TWO DISTINCT DEMOGRAPHIC AND GEOGRAPHICAL REGIONS

Baran R. T., Adanir A. S., Karakurt M. N., Dundar M., Aydin M., Ozbek M. N., et al.

HORMONE RESEARCH IN PAEDIATRICS , vol.88, pp.603-604, 2017 (SCI-Expanded, Scopus)

72. Severe hyponatremia and repeated intestinal resections for intestinal dysmotility mimicking congenital aganglionic megacolon due to delay in the diagnosis of congenital hypothyroidism.

Buyukyilmaz G., Baltu D., Soyer T., Tanyıldız M., Demirbilek H.

Annals of pediatric endocrinology & metabolism , vol.21, pp.230-234, 2016 (Scopus)

73. Evaluation of therapeutics management patterns and glycemic control of pediatric type 1 diabetes mellitus patients in Turkey: A nationwide cross-sectional study

Hatun S., Demirbilek H., DARCAN Ş., Yuksel A., Binay C., Simsek D. G., et al.

DIABETES RESEARCH AND CLINICAL PRACTICE , vol.119, pp.32-40, 2016 (SCI-Expanded, Scopus) Sustainable Development

74. Bone Mineral Density in Adolescent Girls with Hypogonadotropic and Hypergonadotropic Hypogonadism

Ozbek M. N., Demirbilek H., Baran R. T., Baran A.

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY , vol.8, no.2, pp.163-169, 2016 (SCI-Expanded, Scopus, TRDizin)

75. A novel ALMS1 homozygous mutation in two Turkish brothers with Alstrom syndrome

Laxer C., Rahman S. A., Sherif M., Tahir S., Cayir A., Demirbilek H., et al.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , vol.29, no.5, pp.585-589, 2016 (SCI-Expanded, Scopus)

76. Severe Hypercalcemia in a Child With Acute Lymphoblastic Leukemia Relapse: Successful Management With Combination of Calcitonin and Bisphosphonate

Tagiyev A., DEMİRBİLEK H., Tavil B., Buyukyilmaz G., Gumruk F., Cetin M.

JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY , vol.38, no.3, pp.232-234, 2016 (SCI-Expanded, Scopus)

77. Anthropometric findings from birth to adulthood and their relation with karyotpye distribution in Turkish girls with Turner syndrome

Sari E., BEREKET A., Yesilkaya E., BAŞ F., Bundak R., Aydin B. K., et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , vol.170, no.4, pp.942-948, 2016 (SCI-Expanded, Scopus)

78. Evaluation of the Epidemiological, Presenting and Follow-up Characteristics and their Impacts on the Glycemic Control in a Large Cohort of Pediatric Type 1 Diabetes Mellitus Patients from Southeastern Anatolian Region of Turkey

Ozbek M. N., Demirbilek H., Baysal B., Baran R. T., Haliloglu B., Ocal M.

HORMONE RESEARCH IN PAEDIATRICS , vol.86, pp.242, 2016 (SCI-Expanded, Scopus)

79. Severe Hyponatremia and Repeated Intestinal Resections for Intestinal Dysmotility Mimicking Congenital Aganglionic Megacolon due to Delay in the Diagnosis of Congenital Hypothyroidism

Buyukyilmaz G., Baltu D., SOYER T., Tanyildiz M., DEMİRBİLEK H.

HORMONE RESEARCH IN PAEDIATRICS , vol.86, pp.519, 2016 (SCI-Expanded, Scopus)

80. Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort

GÜRAN T., Buonocore F., Saka N., Ozbek M. N., Aycan Z., BEREKET A., et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM , vol.101, no.1, pp.283-291, 2016 (SCI-Expanded, Scopus)

81. Genotype and Phenotype Characteristics in 22 Patients with Vitamin D-Dependent Rickets Type I

Tahir S., Demirbilek H., Ozbek M. N., Baran R. T., Tanriverdi S., Hussain K.

HORMONE RESEARCH IN PAEDIATRICS , vol.85, no.5, pp.309-317, 2016 (SCI-Expanded, Scopus)

82. Kallmann Syndrome Due to a Homozygous Missense c.217C > T (p.R73C) Mutation Detected in the Exon-2 of the PROK2 Gene

Ozturk M. N., Demirbilek H., KOTAN L. D., Baysal B., Ocal M., TOPALOĞLU A. K.

HORMONE RESEARCH IN PAEDIATRICS , vol.86, pp.431-432, 2016 (SCI-Expanded, Scopus)

83. Potential Role of Vitamin D in Pathogenesis of Acute Rheumatic Fever

Onan S. H., Demirbilek H., Aldudak B., Bilici M., Demir F., Yilmazer M. M.

HORMONE RESEARCH IN PAEDIATRICS , vol.86, pp.191-192, 2016 (SCI-Expanded, Scopus)

84. A Syndrome of Permanent Neonatal Diabetes Mellitus and Neurological Abnormalities due to a Novel Homozygous Missense c.449T > A (p.I150N) Mutation in NEUROD1 Gene

HATİPOĞLU N., DEMİRBİLEK H., Gul U., Tatli Z. U., Flanagan S., Ellard S., et al.

HORMONE RESEARCH IN PAEDIATRICS , vol.86, pp.204-205, 2016 (SCI-Expanded, Scopus) Sustainable Development

85. Evaluation of Echocardiography and Holter Electrocardiography Findings in Patients with Mucopolysaccharidosis

Aldudak B., Ozbek M. N., Demirbilek H., Saygi S., Celik M., Kangin M.

GUNCEL PEDIATRI-JOURNAL OF CURRENT PEDIATRICS , vol.13, no.3, pp.165-170, 2015 (ESCI, Scopus)

86. Growth curves for Turkish Girls with Turner Syndrome: Results of the Turkish Turner Syndrome Study Group

Darendeliler F., Yesilkaya E., BEREKET A., BAŞ F., Bundak R., Sari E., et al.

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY , vol.7, no.3, pp.183-191, 2015 (SCI-Expanded, Scopus, TRDizin)

87. Clinical characteristics and molecular genetic analysis of 22 patients with neonatal diabetes from the South-Eastern region of Turkey: predominance of non-K-ATP channel mutations

Demirbilek H., Arya V. B., Nuri M., Houghton J. A. L., Baran R. T., Akar M., et al.

EUROPEAN JOURNAL OF ENDOCRINOLOGY , vol.172, no.6, pp.697-705, 2015 (SCI-Expanded, Scopus)

88. Normosmic idiopathic hypogonadotropic hypogonadism due to a novel homozygous nonsense c.C969A (p.Y323X) mutation in the KISS1R gene in three unrelated families

Demirbilek H., Ozbek M. N., Demir K., KOTAN L. D., Cesur Y., Dogan M., et al.

CLINICAL ENDOCRINOLOGY , vol.82, no.3, pp.429-438, 2015 (SCI-Expanded, Scopus)

89. Turner Syndrome and Associated Problems in Turkish Children: A Multicenter Study

Yesilkaya E., BEREKET A., Darendeliler F., BAŞ F., POYRAZOĞLU Ş., Aydin B. K., et al.

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY , vol.7, no.1, pp.27-36, 2015 (SCI-Expanded, Scopus, TRDizin)

90. Capillary Bedside Blood Glucose Measurement in Neonates: Missing a Diagnosis of Galactosemia

Ozbek M. N., Ocal M., Tanriverdi S., Baysal B., Deniz A., Oncel K., et al.

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY , vol.7, no.1, pp.83-85, 2015 (SCI-Expanded, Scopus, TRDizin)

91. Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability

Raimondo A., Chakera A. J., Thomsen S. K., Colclough K., Barrett A., De Franco E., et al.

HUMAN MOLECULAR GENETICS , vol.23, no.24, pp.6432-6440, 2014 (SCI-Expanded, Scopus) Sustainable Development

92. Familial Isolated Growth Hormone Deficiency Due to A Novel Homozygous Missense Mutation in the Growth Hormone Releasing Hormone Receptor Gene: Clinical Presentation With Hypoglycemia

Demirbilek H., Tahir S., Baran R. T., Sherif M., Shah P., Ozbek M. N., et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM , vol.99, no.12, 2014 (SCI-Expanded, Scopus)

93. Prepubertal Unilateral Gynecomastia: Report of 2 Cases

Demirbilek H., Bacak G., Baran R. T., Avci Y., Baran A., Keles A., et al.

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY , vol.6, no.4, pp.250-253, 2014 (SCI-Expanded, Scopus)

94. Long-Term Follow-Up of Children With Congenital Hyperinsulinism on Octreotide Therapy

Demirbilek H., Shah P., Arya V. B., Hinchey L., Flanagan S. E., Ellard S., et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM , vol.99, no.10, pp.3660-3667, 2014 (SCI-Expanded, Scopus)

95. Clinical characteristics and phenotype-genotype analysis in Turkish patients with congenital hyperinsulinism; predominance of recessive K-ATP channel mutations

Demirbilek H., Arya V. B., Ozbek M. N., AKINCI A., Dogan M., Demirel F., et al.

EUROPEAN JOURNAL OF ENDOCRINOLOGY , vol.170, no.6, pp.885-892, 2014 (SCI-Expanded, Scopus)

96. Pancreatic Endocrine and Exocrine Function in Children following Near-Total Pancreatectomy for Diffuse Congenital Hyperinsulinism

Arya V. B., Senniappan S., Demirbilek H., Alam S., Flanagan S. E., Ellard S., et al.

PLOS ONE , vol.9, no.5, 2014 (SCI-Expanded, Scopus)

97. Persistent hyperinsulinaemic hypoglycaemia in infancy

Shah P., Demirbilek H., Hussain K.

SEMINARS IN PEDIATRIC SURGERY , vol.23, no.2, pp.76-82, 2014 (SCI-Expanded, Scopus)

98. Oncologic manifestations in children with neurofibromatosis type 1 in Turkey

İNCECİK F., ALTUNBAŞAK Ş., HERGÜNER M., BAYRAM İ., KÜPELİ S., Demirbilek H.

TURKISH JOURNAL OF PEDIATRICS , vol.55, no.3, pp.266-270, 2013 (SCI-Expanded, Scopus)

99. Combined nutritional anemia coexisting with microcytic anemia

Yildirim A. T., Demirbilek H., Saygi S., Aliosmanoglu C., Soker M.

IZMIR DR BEHCET UZ COCUK HASTANESI DERGISI , vol.3, no.1, pp.44-48, 2013 (ESCI, TRDizin)

100. Prevalence of type 1 diabetes mellitus in school children 6-18 years old in Diyarbakir, Southeastern Anatolian Region of Turkey

Demirbilek H., Ozbek M. N.

TURKISH JOURNAL OF MEDICAL SCIENCES , vol.43, no.5, pp.768-774, 2013 (SCI-Expanded, Scopus, TRDizin)

101. Incidence of Type 1 Diabetes Mellitus in Turkish Children from the Southeastern Region of the Country: A Regional Report

Demirbilek H., Ozbek M. N., Baran R. T.

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY , vol.5, no.2, pp.98-103, 2013 (SCI-Expanded, Scopus)

102. Neurofibromatosis Type 1 and Autoimmune Hyperthyroidism in a 10.5 Years-Old Girl

Demirbilek H., Kupeli S., Ozbek M. N., Saygi S., Yildirim A. T.

CUKUROVA MEDICAL JOURNAL , vol.38, no.4, pp.805-808, 2013 (ESCI, TRDizin)

103. Multiple Pituitary Hormone Deficiency Due to Gunshot Injury in a 6-Year-Old Girl

Demirbilek H., Ozbek M. N., Baran R. T., Baran A.

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY , vol.5, no.3, pp.209-211, 2013 (SCI-Expanded, Scopus)

104. 17 beta-Hydroxysteroid dehydrogenase type 3 deficiency as a result of a homozygous 7 base pair deletion in 17 beta HSD3 gene

ALİKAŞİFOĞLU A., Hiort O., Gonc N., DEMİRBİLEK H., Isik E., KANDEMİR N.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , vol.25, pp.561-563, 2012 (SCI-Expanded, Scopus)

105. Evaluation of serum kisspeptin levels in girls in the diagnosis of central precocious puberty and in the assessment of pubertal suppression

DEMİRBİLEK H., GÖNÇ E. N., Ozon A., ALİKAŞİFOĞLU A., KANDEMİR N.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , vol.25, pp.313-316, 2012 (SCI-Expanded, Scopus)

106. Vitamin D-deficient rickets mimicking ankylosing spondylitis in an adolescent girl

DEMİRBİLEK H., Aydogdu D., Ozon A.

TURKISH JOURNAL OF PEDIATRICS , vol.54, no.2, pp.177-179, 2012 (SCI-Expanded, Scopus) Sustainable Development

107. Distribution of Gene Mutations Associated with Familial Normosmic Idiopathic Hypogonadotropic Hypogonadism

GÜRBÜZ F., KOTAN L. D., Mengen E., Siklar Z., Berberoglu M., Dokmetas S., et al.

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY , vol.4, no.3, pp.121-126, 2012 (SCI-Expanded, Scopus)

108. Hypophosphatasia Presenting with Pyridoxine-Responsive Seizures, Hypercalcemia, and Pseudotumor Cerebri: Case Report

DEMİRBİLEK H., Alanay Y., ALİKAŞİFOĞLU A., TOPÇU M., Mornet E., Gonc N., et al.

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY , vol.4, no.1, pp.34-38, 2012 (SCI-Expanded, Scopus)

109. The role of the resistive index in Hashimoto's thyroiditis: a Sonographic pilot study in children

Sarikaya B., DEMİRBİLEK H., AKATA D., KANDEMİR N.

CLINICS , vol.67, no.11, pp.1253-1257, 2012 (SCI-Expanded, Scopus)

110. Assessment of gonadotrophin suppression in girls treated with GnRH analogue for central precocious puberty; validity of single luteinizing hormone measurement after leuprolide acetate injection

DEMİRBİLEK H., ALİKAŞİFOĞLU A., Gonc N. E., Ozon A., KANDEMİR N.

CLINICAL ENDOCRINOLOGY , vol.76, no.1, pp.126-130, 2012 (SCI-Expanded, Scopus)

111. GnRH stimulation Test in precocious puberty: Single sample is adequate for diagnosis and dose adjustment

KANDEMİR N., DEMİRBİLEK H., ÖZÖN Z. A., Gönç N., ALİKAŞİFOĞLU A.

JCRPE Journal of Clinical Research in Pediatric Endocrinology , vol.3, no.1, pp.12-17, 2011 (SCI-Expanded, Scopus)

112. Two pediatric patients with Von Hippel-Lindau disease type 2b: from patient to screening, from screening to patient

Gonc N., Engiz O., Neumann H. P. H., DEMİRBİLEK H., Ozon A., ALİKAŞİFOĞLU A., et al.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , vol.24, pp.109-112, 2011 (SCI-Expanded, Scopus)

113. Anemia and Neutropenic Fever with High Dose Diazoxide Treatment in a Case with Hyperinsulinism Due to Munchausen by Proxy

Ozon A., DEMİRBİLEK H., ERTUĞRUL A., ÜNAL S., GÜMRÜK F., KANDEMİR N.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , vol.23, no.7, pp.719-723, 2010 (SCI-Expanded, Scopus)

114. Assessment of thyroid function during the long course of Hashimoto's thyroiditis in children and adolescents

DEMİRBİLEK H., KANDEMİR N., GÖNÇ E. N., Ozon A., ALİKAŞİFOĞLU A.

CLINICAL ENDOCRINOLOGY , vol.71, no.3, pp.451-454, 2009 (SCI-Expanded, Scopus)

115. Single sample during gonadotropin stimulation test is adequate for the diagnosis of precocious puberty

KANDEMİR N., DEMİRBİLEK H., Ozon A., Gonc N., ALİKAŞİFOĞLU A.

HORMONE RESEARCH , vol.72, pp.336, 2009 (SCI-Expanded)

116. A case of iatrogenic thyrotoxicosis presenting with malnutrition and fever of unknown origin Malnütrisyon ve tekrarlayan nedeni bilinmeyen ateş nedeni ile getirilen iatrojenik trikotoksikoz vakasi

Arikan Z. T., Güder E., Aykan H., DEMİRBİLEK H., Özön A., YALÇIN S. S.

Cocuk Sagligi ve Hastaliklari Dergisi , vol.51, no.2, pp.91-94, 2008 (Scopus) Sustainable Development

117. A clinical review of patients with 45 XO/46 XY genotype

ALİKAŞİFOĞLU A., DEMİRBİLEK H., Ozon A., Gonc N., Kandemir N.

HORMONE RESEARCH , vol.70, pp.156, 2008 (SCI-Expanded)

118. Hashimoto's thyroiditis in children and adolescents: A retrospective study on clinical, epidemiological and laboratory properties of the disease

DEMİRBİLEK H., KANDEMİR N., GÖNÇ E. N., Ozon A., ALİKAŞİFOĞLU A., Yordam N.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , vol.20, no.11, pp.1199-1205, 2007 (SCI-Expanded, Scopus)

119. Hypoglycaemia and hypothermia due to nimesulide overdose

Yapakci E., Uysal O., Demirbilek H., Olgar S., Nacar N., Ozen H.

ARCHIVES OF DISEASE IN CHILDHOOD , vol.85, no.6, pp.510, 2001 (SCI-Expanded, Scopus)

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