Prof. Dr. HÜSEYİN DEMİRBİLEK

2026

1. Children With Diabetes and At Least One Non-Autoimmune Feature Should Be Considered for Monogenic Diabetes Testing.

Myers R., Yildiz M., Nuri Ozbek M., Manzoor J., Ibrahim M., Yajnik C., et al.

The Journal of clinical endocrinology and metabolism , cilt.111, sa.2, 2026 (SCI-Expanded, Scopus)

2026

2. Long-read sequencing enables trio-assisted phasing of de novo variants in the imprinted gene MAGEL2

Laver T. W., Sangha P., Mallin L., Cohen M., ÜNSAL Y., DEMİRBİLEK H., et al.

Journal of Medical Genetics , 2026 (SCI-Expanded, Scopus)

2026

3. Advances in Pharmacotherapy for Congenital Hyperinsulinism.

González-Llorens N., Yau D., León M. C., Demirbilek H., Banerjee I., Shah P.

Paediatric drugs , cilt.28, sa.1, ss.15-29, 2026 (SCI-Expanded, Scopus)

2025

4. Diabetes Insipidus as an Early Clinical Indicator of Wolfram Syndrome Type 1: Evidence From a Symptom-Based Screening Approach.

Gundogdu Ogutlu O. B., Cayır A., Donmez A. S., Koca S. B., Yarali O., Demirbilek H.

Pediatric diabetes , cilt.2025, ss.8692152, 2025 (SCI-Expanded, Scopus)

2025

5. The Course of Progranulin Levels at Admission and During Early Period of Insulin Treatment in Children with Newly Diagnosed Type 1 Diabetes Mellitus.

Donmez A. S., Cayir A., Laloglu E., Lazoglu Ozkaya A., Dişci E., Kilic Kaya S., et al.

Journal of clinical research in pediatric endocrinology , 2025 (SCI-Expanded, Scopus, TRDizin)

2025

6. Evaluation of Artificial Intelligence Answers for Short Stature in Paediatric Endocrinology by Paediatric Endocrinologists.

Kaşali K., Özpolat Ö. F., Ülkü M., Dönmez A. S., Kılıç Kaya S., Dişçi E., et al.

Journal of clinical research in pediatric endocrinology , 2025 (SCI-Expanded, Scopus, TRDizin)

2025

7. Comparison of long-term height and pubertal outcomes in boys with delayed puberty due to constitutional delay in growth and puberty (CDGP) and isolated hypogonadotropic hypogonadism (iHH).

Dogan O., Vuralli D., Demirbilek H.

European journal of pediatrics , cilt.184, sa.9, ss.545, 2025 (SCI-Expanded, Scopus)

2025

8. 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.

Cayir A., Demirbilek H., Türkyılmaz A., Turan S., Bereket A., Darendeliler F., et al.

Hormone research in paediatrics , ss.1-9, 2025 (SCI-Expanded, Scopus)

2025

9. Global, multi-center, repeat-dose, phase 2 study of RZ358 (ersodetug), an insulin receptor antibody, for congenital hyperinsulinism.

Demirbilek H., Melikyan M., Iotova V., Galcheva S., Ozbek M. N., Dastamani A., et al.

Med (New York, N.Y.) , cilt.6, sa.6, ss.100611, 2025 (ESCI, Scopus)

2025

10. 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 , cilt.17, sa.2, ss.191-201, 2025 (SCI-Expanded, Scopus, TRDizin)

2025

11. Assessment of Quadriceps Muscle Strength and Thickness in Adolescents with Polycystic Ovary Syndrome: A Case-control and Longitudinal Follow-up Study.

Güven A. G., Kara M., Güneri S., Aygün Arı D., Karabulut E., Demirbilek H., et al.

Journal of clinical research in pediatric endocrinology , cilt.17, sa.2, ss.202-210, 2025 (SCI-Expanded, Scopus, TRDizin)

2025

12. **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 , sa.1, 2025 (SCI-Expanded, Scopus)

2025

13. Late Effects Following Hematopoietic Stem Cell Transplantation Among Childhood Transplant Survivors with Fanconi Anemia

Ozkocer C., Visal Okur F. V., Demirbilek H., Altintas B., Cetin N., Kuskonmaz B. B., et al.

TURKISH JOURNAL OF HEMATOLOGY , cilt.42, sa.1, ss.15-24, 2025 (SCI-Expanded, Scopus, TRDizin)

2025

14. 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)

2024

15. 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)

2024

16. 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 , cilt.37, ss.988-989, 2024 (SCI-Expanded, Scopus)

2024

17. 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 , ss.530-531, 2024 (SCI-Expanded, Scopus)

2024

18. 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 , ss.483-484, 2024 (SCI-Expanded, Scopus)

2024

19. **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 , ss.203, 2024 (SCI-Expanded, Scopus)

2024

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

Koca S. B., DEMİRBİLEK H.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , cilt.37, sa.9, ss.773-778, 2024 (SCI-Expanded, Scopus)

2024

21. 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 , cilt.68, 2024 (SCI-Expanded, Scopus)

2023

22. **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 , cilt.15, sa.2, ss.104-113, 2023 (SCI-Expanded, Scopus)

2023

23. 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 , ss.387, 2023 (SCI-Expanded, Scopus)

2023

24. 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 , ss.589, 2023 (SCI-Expanded, Scopus)

2023

25. **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 , cilt.15, sa.3, ss.329-333, 2023 (SCI-Expanded, Scopus, TRDizin)

2023

26. 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 , cilt.98, sa.6, ss.788-795, 2023 (SCI-Expanded, Scopus)

2023

27. 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 , cilt.16, ss.259-273, 2023 (SCI-Expanded, Scopus)

2023

28. 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 , cilt.18, sa.1, ss.31-37, 2023 (SCI-Expanded, Scopus)

2022

29. TWO OPPOSITE PHENOTYPES OF GLUCOSE DISORDERS IN A FAMILY WITH HETEROZYGOUS P.SER453LEU (C.1358C> T) MUTATION IN THE GLUCOKINASE (GCK) GENE: MATURITY ONSET DIABETES IN YOUNG AND INSULINOMA.

Demiral M., Çelebi H. B. G., Cander S., Yerci O., Eren E., Demirbilek H.

Acta endocrinologica (Bucharest, Romania : 2005) , cilt.18, sa.4, ss.458-465, 2022 (SCI-Expanded, Scopus)

2022

30. 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 , cilt.95, sa.SUPPL 2, ss.100, 2022 (SCI-Expanded, Scopus)

2022

31. 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 , cilt.95, sa.SUPPL 2, ss.119-120, 2022 (SCI-Expanded, Scopus)

2022

32. 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 , cilt.95, sa.SUPPL 2, ss.62-63, 2022 (SCI-Expanded, Scopus)

2022

33. **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 , cilt.95, sa.SUPPL 2, ss.216, 2022 (SCI-Expanded, Scopus)

2022

34. 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 , cilt.95, sa.SUPPL 2, ss.32-33, 2022 (SCI-Expanded, Scopus)

2022

35. 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 , cilt.48, sa.1, 2022 (SCI-Expanded, Scopus)

2022

36. 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 , cilt.95, sa.SUPPL 1, ss.265-266, 2022 (SCI-Expanded, Scopus)

2022

37. 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 , cilt.14, sa.2, ss.172-178, 2022 (SCI-Expanded, Scopus, TRDizin)

2022

38. 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 , cilt.35, ss.695-698, 2022 (SCI-Expanded, Scopus)

2022

39. 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 , cilt.186, sa.4, ss.417-427, 2022 (SCI-Expanded, Scopus)

2022

40. 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 , cilt.65, sa.2, ss.336-342, 2022 (SCI-Expanded, Scopus)

2022

41. 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 , cilt.10, sa.01, 2022 (ESCI)

2022

42. 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 , cilt.32, sa.1, ss.88-93, 2022 (SCI-Expanded, Scopus)

2022

43. NUTRITIONAL HABITS, COMPLIANCE WITH HEALTHY DIET AND INSULIN THERAPY, DEPRESSION AND FAMILY FUNCTIONALITY IN CHILDREN WITH TYPE 1 DIABETES MELLITUS DURING THE COVID-19 PANDEMIC PERIOD

Koca S. B., Bukulmez A., Oflu A. T., Tahta E. G., Demirbilek H.

ACTA ENDOCRINOLOGICA-BUCHAREST , cilt.18, sa.1, ss.40-48, 2022 (SCI-Expanded, Scopus)

2021

44. 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 , cilt.34, sa.11, ss.1463-1468, 2021 (SCI-Expanded, Scopus)

2021

45. 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 , cilt.106, sa.9, 2021 (SCI-Expanded, Scopus)

2021

46. **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 , cilt.13, ss.34-43, 2021 (SCI-Expanded, Scopus, TRDizin)

2021

47. 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 , cilt.13, ss.72-79, 2021 (SCI-Expanded, Scopus, TRDizin)

2021

48. 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 , ss.276-280, 2021 (ESCI)

2021

49. 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 , cilt.37, sa.6, ss.3647-3654, 2021 (SCI-Expanded, Scopus)

2021

50. 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 , cilt.34, sa.6, ss.771-780, 2021 (SCI-Expanded, Scopus)

2020

51. 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 , cilt.105, 2020 (SCI-Expanded, Scopus)

2020

52. 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 , cilt.21, sa.7, ss.1169-1175, 2020 (SCI-Expanded, Scopus)

2020

53. 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 , cilt.12, sa.3, ss.319-328, 2020 (SCI-Expanded, Scopus, TRDizin)

2020

54. 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 , cilt.12, sa.3, ss.295-302, 2020 (SCI-Expanded, Scopus, TRDizin)

2020

55. 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 , cilt.12, sa.3, ss.275-280, 2020 (SCI-Expanded, Scopus, TRDizin)

2020

56. 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 , cilt.33, sa.6, ss.735-742, 2020 (SCI-Expanded, Scopus)

2020

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

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

EUROPEAN JOURNAL OF PEDIATRIC SURGERY REPORTS , cilt.8, sa.1, ss.35-38, 2020 (ESCI)

2019

58. 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 , cilt.91, ss.173, 2019 (SCI-Expanded, Scopus)

2019

59. 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 , cilt.91, ss.253-254, 2019 (SCI-Expanded, Scopus)

2019

60. 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 , cilt.91, ss.163, 2019 (SCI-Expanded, Scopus)

2019

61. 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 , cilt.91, ss.230, 2019 (SCI-Expanded, Scopus)

2019

62. Ion Transporters, Channelopathies, and Glucose Disorders

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

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES , cilt.20, sa.10, 2019 (SCI-Expanded, Scopus)

2019

63. 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 , cilt.22, sa.4, ss.539-545, 2019 (SCI-Expanded, Scopus)

2019

64. 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 , cilt.11, sa.1, ss.82-87, 2019 (SCI-Expanded, Scopus, TRDizin)

2019

65. The Genetic and Molecular Mechanisms of Congenital Hyperinsulinism

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

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

2019

66. 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 , cilt.91, sa.3, ss.175-185, 2019 (SCI-Expanded, Scopus)

2019

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

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

NEUROENDOCRINOLOGY LETTERS , cilt.40, sa.1, ss.36-40, 2019 (SCI-Expanded, Scopus)

2018

68. 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 , cilt.33, sa.10, ss.1974, 2018 (SCI-Expanded, Scopus)

2018

69. 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 , cilt.60, sa.5, ss.554-561, 2018 (SCI-Expanded, Scopus, TRDizin)

2018

70. 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 , cilt.19, sa.5, ss.898-904, 2018 (SCI-Expanded, Scopus)

2018

71. 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 , cilt.7, sa.1, ss.46-48, 2018 (ESCI)

2018

72. 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 , cilt.90, ss.213, 2018 (SCI-Expanded, Scopus)

2018

73. 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 , cilt.43, sa.1, ss.231-234, 2018 (ESCI, TRDizin)

2018

74. 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 , cilt.90, ss.161-162, 2018 (SCI-Expanded, Scopus)

2018

75. 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 , cilt.90, ss.305, 2018 (SCI-Expanded, Scopus)

2018

76. 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 , cilt.90, ss.366-367, 2018 (SCI-Expanded, Scopus)

2018

77. 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 , cilt.90, ss.358, 2018 (SCI-Expanded, Scopus)

2018

78. 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 , cilt.90, ss.461-462, 2018 (SCI-Expanded, Scopus)

2017

79. Congenital Hyperinsulinism: Diagnosis and Treatment Update

DEMİRBİLEK H., Hussain K.

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

2017

80. Hyperinsulinaemic hypoglycaemia in children and adults

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

LANCET DIABETES & ENDOCRINOLOGY , cilt.5, sa.9, ss.729-742, 2017 (SCI-Expanded, Scopus)

2017

81. 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 (Hakemli Dergi)

2017

82. 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 , cilt.18, sa.1, ss.75-76, 2017 (SCI-Expanded, Scopus, TRDizin)

2017

83. 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 , cilt.176, sa.6, ss.657-667, 2017 (SCI-Expanded, Scopus)

2017

84. 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 , cilt.88, ss.603-604, 2017 (SCI-Expanded, Scopus)

2016

85. 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 , cilt.21, ss.230-234, 2016 (Scopus)

2016

86. 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 , cilt.119, ss.32-40, 2016 (SCI-Expanded, Scopus)

2016

87. 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 , cilt.8, sa.2, ss.163-169, 2016 (SCI-Expanded, Scopus, TRDizin)

2016

88. 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 , cilt.29, sa.5, ss.585-589, 2016 (SCI-Expanded, Scopus)

2016

89. 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 , cilt.38, sa.3, ss.232-234, 2016 (SCI-Expanded, Scopus)

2016

90. 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 , cilt.170, sa.4, ss.942-948, 2016 (SCI-Expanded, Scopus)

2016

91. 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 , cilt.86, ss.519, 2016 (SCI-Expanded, Scopus)

2016

92. 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 , cilt.86, ss.204-205, 2016 (SCI-Expanded, Scopus)

2016

93. 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 , cilt.86, ss.242, 2016 (SCI-Expanded, Scopus)

2016

94. 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 , cilt.86, ss.431-432, 2016 (SCI-Expanded, Scopus)

2016

95. 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 , cilt.101, sa.1, ss.283-291, 2016 (SCI-Expanded, Scopus)

2016

96. 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 , cilt.86, ss.191-192, 2016 (SCI-Expanded, Scopus)

2016

97. 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 , cilt.85, sa.5, ss.309-317, 2016 (SCI-Expanded, Scopus)

2015

98. 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 , cilt.13, sa.3, ss.165-170, 2015 (ESCI, Scopus)

2015

99. 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 , cilt.7, sa.3, ss.183-191, 2015 (SCI-Expanded, Scopus, TRDizin)

2015

100. 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 , cilt.172, sa.6, ss.697-705, 2015 (SCI-Expanded, Scopus)

2015

101. 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 , cilt.7, sa.1, ss.83-85, 2015 (SCI-Expanded, Scopus, TRDizin)

2015

102. 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 , cilt.7, sa.1, ss.27-36, 2015 (SCI-Expanded, Scopus, TRDizin)

2015

103. 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 , cilt.82, sa.3, ss.429-438, 2015 (SCI-Expanded, Scopus)

2014

104. 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 , cilt.23, sa.24, ss.6432-6440, 2014 (SCI-Expanded, Scopus)

2014

105. 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 , cilt.6, sa.4, ss.250-253, 2014 (SCI-Expanded, Scopus)

2014

106. 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 , cilt.99, sa.12, 2014 (SCI-Expanded, Scopus)

2014

107. 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 , cilt.99, sa.10, ss.3660-3667, 2014 (SCI-Expanded, Scopus)

2014

108. 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 , cilt.170, sa.6, ss.885-892, 2014 (SCI-Expanded, Scopus)

2014

109. 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 , cilt.9, sa.5, 2014 (SCI-Expanded, Scopus)

2014

110. Persistent hyperinsulinaemic hypoglycaemia in infancy

Shah P., Demirbilek H., Hussain K.

SEMINARS IN PEDIATRIC SURGERY , cilt.23, sa.2, ss.76-82, 2014 (SCI-Expanded, Scopus)

2013

111. 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 , cilt.55, sa.3, ss.266-270, 2013 (SCI-Expanded, Scopus)

2013

112. 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 , cilt.3, sa.1, ss.44-48, 2013 (ESCI, TRDizin)

2013

113. 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 , cilt.38, sa.4, ss.805-808, 2013 (ESCI, TRDizin)

2013

114. 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 , cilt.43, sa.5, ss.768-774, 2013 (SCI-Expanded, Scopus, TRDizin)

2013

115. 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 , cilt.5, sa.3, ss.209-211, 2013 (SCI-Expanded, Scopus)

2013

116. 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 , cilt.5, sa.2, ss.98-103, 2013 (SCI-Expanded, Scopus)

2012

117. 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 , cilt.25, ss.561-563, 2012 (SCI-Expanded, Scopus)

2012

118. 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 , cilt.25, ss.313-316, 2012 (SCI-Expanded, Scopus)

2012

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

DEMİRBİLEK H., Aydogdu D., Ozon A.

TURKISH JOURNAL OF PEDIATRICS , cilt.54, sa.2, ss.177-179, 2012 (SCI-Expanded, Scopus)

2012

120. 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 , cilt.4, sa.1, ss.34-38, 2012 (SCI-Expanded, Scopus)

2012

121. 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 , cilt.76, sa.1, ss.126-130, 2012 (SCI-Expanded, Scopus)

2012

122. 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 , cilt.67, sa.11, ss.1253-1257, 2012 (SCI-Expanded, Scopus)

2012

123. 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 , cilt.4, sa.3, ss.121-126, 2012 (SCI-Expanded, Scopus)

2011

124. 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 , cilt.24, ss.109-112, 2011 (SCI-Expanded, Scopus)

2011

125. 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 , cilt.3, sa.1, ss.12-17, 2011 (SCI-Expanded, Scopus)

2010

126. 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 , cilt.23, sa.7, ss.719-723, 2010 (SCI-Expanded, Scopus)

2009

127. 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 , cilt.71, sa.3, ss.451-454, 2009 (SCI-Expanded, Scopus)

2009

128. 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 , cilt.72, ss.336, 2009 (SCI-Expanded)

2008

129. 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 , cilt.51, sa.2, ss.91-94, 2008 (Scopus)

2008

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

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

HORMONE RESEARCH , cilt.70, ss.156, 2008 (SCI-Expanded)

2007

131. 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 , cilt.20, sa.11, ss.1199-1205, 2007 (SCI-Expanded, Scopus)

2001