Doç. Dr. ZEHRA YAVAŞ ABALI

Yayın Ağı

Makaleler 63

1. Clinical and Genetic Mechanisms in Patients with MC2R Deficiency Presenting with Early Puberty

Karakilic Ozturan E., Yavas Abali Z., KARAMAN V., POYRAZOĞLU Ş., UYGUNER Z. O., Darendeliler F., et al.

Hormone Research in Paediatrics , cilt.98, sa.5, ss.543-550, 2025 (SCI-Expanded, Scopus)

2. Clinical and Molecular Genetic Characteristics of Patients with Hereditary Hypophosphatemia.

Eltan M., Alavanda C., Abali Z., Tosun B. G., Kurt I., Kirkgoz T., et al.

The Journal of clinical endocrinology and metabolism , cilt.110, sa.9, 2025 (SCI-Expanded, Scopus)

3. Comprehensive clinical and molecular characterization with long-term outcomes in 40 patients with congenital hyperinsulinism

Yavas Abali Z., BAŞ F., Houghton J. A. L., ABALI S., Karakilic Ozturan E., Gulec C., et al.

Endocrine , cilt.89, sa.2, ss.416-428, 2025 (SCI-Expanded, Scopus)

4. Novel IGF1R Variants in Short Stature: Lessons from Two Patients and Outcome of Growth Hormone Therapy.

Eltan M., Sekizkardes H., Canbek S., Yarar M. H., Abali S., Yavas Abali Z.

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

5. Evaluation of Growth Characteristics and Final Heights of Cases Diagnosed with Noonan Syndrome on GH Treatment.

Şıklar Z., Berberoğlu M., Kızılcan Çetin S., Yıldız M., Turan S., Darcan Ş., et al.

Journal of clinical research in pediatric endocrinology , cilt.17, ss.76-86, 2025 (SCI-Expanded, Scopus, TRDizin)

6. Antenatal Diagnosis and Treatment in Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency and Congenital Adrenal Hyperplasia Screening in Newborns

Abalı Z. Y., KURNAZ E., GURAN T.

Journal of Clinical Research in Pediatric Endocrinology , cilt.17, sa.1, ss.33-43, 2025 (SCI-Expanded, Scopus, TRDizin)

7. Dual molecular genetic diagnosis with combined malonic and methylmalonic aciduria (CMAMMA): implications of coexisting genetic disorders on clinical presentation

Ersoy M., Abali Z. Y., Cakir E. D. P., Erdin S., Yararbas K., ABALI S.

Journal of Pediatric Endocrinology and Metabolism , 2025 (SCI-Expanded, Scopus)

8. Temporal Trends in Acute Adrenal Insufficiency Events in Children With Congenital Adrenal Hyperplasia During 2019-2022.

Tseretopoulou X., Ali S. R., Bryce J., Amin N., Atapattu N., Bachega T. A. S. S., et al.

Journal of the Endocrine Society , cilt.8, sa.10, 2024 (ESCI, Scopus)

9. A Rare Inherited Bone Marrow Failure Syndrome Disclosed by Reanalysis of the Exome Data of a Patient Evaluated for Cytopenia and Dysmorphic Features

Durmaz D., Aslanger A. D., Yavas Abali Z., Yilmaz Y., KARAMAN V., Yesil Sayin G., et al.

Journal of Pediatric Hematology/Oncology , cilt.46, sa.3, 2024 (SCI-Expanded, Scopus)

10. Development of external genitalia during mini-puberty: is it related to somatic growth or reproductive hormones?

Gacemer H. A., Tosun B. G., Helvacioglu D., Yaman A., Abali Z., HALİLOĞLU B., et al.

European journal of pediatrics , cilt.183, sa.3, ss.1325-1332, 2024 (SCI-Expanded, Scopus)

11. Venous Thrombosis in a Pseudohypoparathyroidism Patient with a Novel GNAS Frameshift Mutation and Complete Resolution of Vascular Calcifications with Acetazolamide Treatment.

Menevse T. S., Iwasaki Y., Abali Z., Tosun B. G., Helvacioglu D., DOĞRU Ö., et al.

Hormone research in paediatrics , cilt.97, sa.4, ss.404-415, 2024 (SCI-Expanded, Scopus)

12. Diagnosis and management of non-CAH 46,XX disorders/differences in sex development

Yavas Abalı Z., GÜRAN T.

Frontiers in Endocrinology , cilt.15, 2024 (SCI-Expanded, Scopus)

13. A Novel RNPC3 Gene Variant Expands the Phenotype in Patients with Congenital Hypopituitarism and Neuropathy.

Abali Z., Ili E. G., BAŞ F., Ozkan M. U., Gulec Ç., TOKSOY G., et al.

Hormone research in paediatrics , cilt.97, sa.2, ss.157-164, 2024 (SCI-Expanded, Scopus)

14. Phenotype-Genotype Correlations of GH1 Gene Variants in Patients with Isolated Growth Hormone Deficiency or Multiple Pituitary Hormone Deficiency.

Öztürk A. P., Yavas Abali Z., Aslanger A. D., BAŞ F., TOKSOY G., KARAMAN V., et al.

Hormone research in paediatrics , cilt.97, sa.2, ss.126-133, 2024 (SCI-Expanded, Scopus)

15. PROKR2 Mutations in Patients with Short Stature Who Have Isolated Growth Hormone Deficiency and Multiple Pituitary Hormone Deficiency.

Kardelen A. D., Najaflı A., BAŞ F., KARAMAN B., TOKSOY G., POYRAZOĞLU Ş., et al.

Journal of clinical research in pediatric endocrinology , cilt.15, sa.4, ss.338-347, 2023 (SCI-Expanded, Scopus, TRDizin)

16. Interdisiplinary and intraobserver reliability of the Greulich-Pyle method among Turkish children.

SARIYILMAZ K., ABALI S., ZİROĞLU N., Cingoz T., Ozkunt O., Abali Z., et al.

Journal of pediatric endocrinology & metabolism : JPEM , cilt.36, sa.12, ss.1181-1185, 2023 (SCI-Expanded, Scopus)

17. Hormonal control during infancy and testicular adrenal rest tumor development in males with congenital adrenal hyperplasia: a retrospective multicenter cohort study

Schröder M. A. M., Neacşu M., Adriaansen B. P. H., Sweep F. C. G. J., Ahmed S. F., Ali S. R., et al.

European journal of endocrinology , cilt.189, sa.4, ss.460-468, 2023 (SCI-Expanded, Scopus)

18. Challenges in the management of a 7 years old child with thyrotropin-secreting pituitary adenoma and the review of the literature

KIRKGÖZ T., Abali S., Seker A., GÜRPINAR TOSUN B., ELTAN M., Helvacioglu D., et al.

HORMONE RESEARCH IN PAEDIATRICS , cilt.96, sa.5, ss.527-537, 2023 (SCI-Expanded, Scopus)

19. Two new cases with novel pathogenic variants reflecting the clinical diversity of Schaaf-Yang syndrome

ALAVANDA C., Arslan Ateş E., Yavaş Abalı Z., GEÇKİNLİ B. B., DEMİRCİOĞLU S., ARMAN A.

Clinical Genetics , cilt.104, sa.1, ss.127-132, 2023 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

20. Decline in the Age of Menarche in Istanbul Schoolgirls Over the Last 12 Years.

GÜRAN T., HELVACIOĞLU D., TOSUN B. G., ABALI Z., Alır F., Arslan Y. t., et al.

Journal of clinical research in pediatric endocrinology , cilt.15, sa.2, ss.154-159, 2023 (SCI-Expanded, Scopus, TRDizin)

21. Long-Term Endocrinologic Follow-Up of Children with Brain Tumors and Comparison of Growth Hormone Therapy Outcomes: A Single-Center Experience

Yavaş Abalı Z., Öztürk A. P., BAŞ F., POYRAZOĞLU Ş., Akcan N., KEBUDİ R., et al.

Turkish Archives of Pediatrics , cilt.58, sa.3, ss.308-313, 2023 (ESCI, Scopus, TRDizin)

22. Molecular analysis of MKRN3 gene in Turkish girls with sporadic and familial idiopathic central

KIRKGÖZ T., KAYGUSUZ S. B., ALAVANDA C., Helvacioglu D., Abali Z., GÜRPINAR TOSUN B., et al.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , cilt.36, sa.4, ss.401-408, 2023 (SCI-Expanded, Scopus)

23. Analysis of therapy monitoring in the International Congenital Adrenal Hyperplasia Registry

Lawrence N., Bacila I., Dawson J., Bryce J., Ali S. R., van den Akker E. L. T., et al.

CLINICAL ENDOCRINOLOGY , cilt.97, sa.5, ss.551-561, 2022 (SCI-Expanded, Scopus)

24. Evaluation of growth, puberty, osteoporosis, and the response to long-term bisphosphonate therapy in four patients with osteoporosis-pseudoglioma syndrome

Karakilic-Ozturan E., Altunoglu U., Ozturk A. P., Kardelen Al A. D., Yavas Abali Z., Avci S., et al.

American Journal of Medical Genetics, Part A , cilt.188, sa.7, ss.2061-2070, 2022 (SCI-Expanded, Scopus)

25. RASopatilerin Moleküler Genetik Özellikleri

Yavaş Abalı Z., Demircioğlu S.

Türkiye Klinikleri Pediatri Dergisi , cilt.1, sa.1, ss.14-24, 2022 (Hakemsiz Dergi)

26. Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis Due to CLDN16 Gene Mutations: Novel Findings in Two Cases with Diverse Clinical Features

Eltan M., Abali Z., Turkyilmaz A., Gökce İ., Abali S., Alavanda C., et al.

CALCIFIED TISSUE INTERNATIONAL , cilt.110, sa.4, ss.441-450, 2022 (SCI-Expanded, Scopus)

27. Efficacy of the Novel Degludec/Aspart Insulin Co-formulation in Children and Adolescents with Type 1 Diabetes: A Real-life Experience with 1-year IDeg/Asp Therapy in Poorly Controlled and Non-compliant Patients.

Kirkgoz T., Eltan M., Kaygusuz S. B., Yavas Abali Z., Helvacioglu D., Seven Menevse T., et al.

Journal of clinical research in pediatric endocrinology , cilt.14, ss.10-16, 2022 (SCI-Expanded, Scopus, TRDizin)

28. Broad-spectrum XX and XY gonadal dysgenesis in patients with a homozygous L193S variant in PPP2R3C.

Cicek D., Warr N., Yesil G., Kocak Eker H., Bas F., Poyrazoglu S., et al.

European journal of endocrinology , cilt.186, ss.65-72, 2022 (SCI-Expanded, Scopus)

29. Mutations in AR or SRD5A2 Genes: Clinical Findings, Endocrine Pitfalls, and Genetic Features of Children with 46,XY DSD

Akcan N., Uyguner O., Baş F., Altunoğlu U., Toksoy G., Karaman B., et al.

JCRPE Journal of Clinical Research in Pediatric Endocrinology , cilt.14, sa.2, ss.153-171, 2022 (SCI-Expanded, Scopus, TRDizin)

30. Comparison of National Growth Standards for Turkish Infants and Children with World Health Organization Growth Standards

Bundak R., Abalı Z., Furman A., Darendeliler F., GÖKÇAY E. G., BAŞ F., et al.

JCRPE Journal of Clinical Research in Pediatric Endocrinology , cilt.14, sa.2, ss.207-215, 2022 (SCI-Expanded, Scopus, TRDizin)

31. Evaluation of the Efficacy and Safety of 3 Different Management Protocols in Pediatric Diabetic Ketoacidosis

Akcan N., Uysalol M., Kandemir I., Soydemir D., Abali Z., POYRAZOĞLU Ş., et al.

Pediatric Emergency Care , cilt.37, sa.11, 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., Keskin M., Ozbek M. N., Bas F., et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM , cilt.106, sa.9, 2021 (SCI-Expanded, Scopus)

33. Broad range of phenotypes in an international cohort of 75 DSD individuals with SF-1/NR5A1 variants

Kouri C., Sommer G., Ahmed F., Balsamo A., Baronio F., Bryce J., et al.

HORMONE RESEARCH IN PAEDIATRICS , cilt.94, sa.SUPPL 1, ss.87-89, 2021 (SCI-Expanded, Scopus)

34. International practice of therapy monitoring in congenital adrenal hyperplasia - Real World data from the I-CAH registry

Lawrence N., Bacila I., Dawson J., Bryce J., van den Akker E., Sartori Sanchez Bachega T. A., et al.

HORMONE RESEARCH IN PAEDIATRICS , cilt.94, sa.SUPPL 1, ss.67-68, 2021 (SCI-Expanded, Scopus)

35. Rapid molecular diagnosis of ALB gene variants prevents unnecessary interventions in familial dysalbuminemic hyperthyroxinemia

ABALI S., Abali Z., Yararbas K., SEMİZ S.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , cilt.34, sa.9, ss.1201-1205, 2021 (SCI-Expanded, Scopus)

36. Variation of glucocorticoid dose and biomarkers in children with congenital adrenal hyperplasia longitudinal analysis of real world data from the I-CAH registry

Lawrence N., Bacila I., Dawson J., Bryce J., van den Akker E. L., Sartori Sanchez Bachega T. A., et al.

HORMONE RESEARCH IN PAEDIATRICS , cilt.94, sa.SUPPL 1, ss.26, 2021 (SCI-Expanded, Scopus)

37. LRBA deficiency: a rare cause of type 1 diabetes, colitis, and severe immunodeficiency

Kardelen A. D., Kara M., Guller D., Ozturan E. K., Abali Z., Ceylaner S., et al.

HORMONES-INTERNATIONAL JOURNAL OF ENDOCRINOLOGY AND METABOLISM , cilt.20, sa.2, ss.389-394, 2021 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

38. Does Genotype–Phenotype Correlation Exist in Vitamin D-Dependent Rickets Type IA: Report of 13 New Cases and Review of the Literature

Kaygusuz S. B., Alavanda C., Kırkgöz T., Eltan M., Yavas Abali Z., Helvacioglu D., et al.

Calcified Tissue International , cilt.108, sa.5, ss.576-586, 2021 (SCI-Expanded, Scopus)

39. International practice of corticosteroid replacement therapy in congenital adrenal hyperplasia: data from the I-CAH registry

Bacila I., Freeman N., Daniel E., Sandrk M., Bryce J., Ali S. R., et al.

EUROPEAN JOURNAL OF ENDOCRINOLOGY , cilt.184, sa.4, ss.553-563, 2021 (SCI-Expanded, Scopus)

40. Clinical Characteristics, Molecular Features, and Long-Term Follow-Up of 15 Patients with Neonatal Diabetes: A Single-Centre Experience

Abali Z., De Franco E., Karakilic Ozturan E., POYRAZOĞLU Ş., Bundak R., BAŞ F., et al.

Hormone Research in Paediatrics , cilt.93, sa.7-8, ss.423-432, 2021 (SCI-Expanded, Scopus)

41. Persistent Mullerian Duct Syndrome: A Rare But Important Etiology of Inguinal Hernia and Cryptorchidism

Bugrul F., Abali Z., Kırkgöz T., Karadeniz Cerit K., Canmemiş A., Demircioğlu S., et al.

SEXUAL DEVELOPMENT , cilt.13, ss.264-270, 2020 (SCI-Expanded, Scopus)

42. A Rare Cause of Hypophosphatemia: Raine Syndrome Changing Clinical Features with Age

Eltan M., Alavanda C., Yavas Abali Z., Ergenekon P., Yalindag Ozturk N., Sakar M., et al.

CALCIFIED TISSUE INTERNATIONAL , cilt.107, ss.96-103, 2020 (SCI-Expanded, Scopus)

43. Management of Systemic Hypersensitivity Reactions to Gonadotropin-Releasing Hormone Analogues during Treatment of Central Precocious Puberty

Kirkgoz T., Karakoc-Aydiner E., Bugrul F., Yavas Abali Z., Helvacioglu D., Kiykim A., et al.

HORMONE RESEARCH IN PAEDIATRICS , cilt.93, sa.1, ss.66-72, 2020 (SCI-Expanded, Scopus)

44. Rare cause of severe hypertension in an adolescent boy presenting with short stature: Answers

Yavas A., Yesil G., Kirkgoz T., Cicek N., Alpay H., Turan S., et al.

PEDIATRIC NEPHROLOGY , cilt.35, sa.3, ss.405-407, 2020 (SCI-Expanded, Scopus)

45. Low DHEAS Concentration in a Girl Presenting with Short Stature and Premature Pubarche: A Novel PAPSS2 Gene Mutation

Eltan M., Yavas Abali Z., Arslan Ates E., Kırkgöz T., Kaygusuz S. B., Türkyllmaz A., et al.

Hormone Research in Paediatrics , cilt.92, sa.4, ss.262-268, 2020 (SCI-Expanded, Scopus)

46. Rare cause of severe hypertension in an adolescent boy presenting with short stature: Questions

Yavas A., Yesil G., Kirkgoz T., Cicek N., Alpay H., Turan S., et al.

PEDIATRIC NEPHROLOGY , cilt.35, sa.3, ss.403-404, 2020 (SCI-Expanded, Scopus)

47. A rare cause of hypertension in childhood: Questions

Kucuk N., Yavas A., Abali S., Canpolat N., Yesil G., Turan S., et al.

PEDIATRIC NEPHROLOGY , cilt.35, sa.1, ss.77-78, 2020 (SCI-Expanded, Scopus)

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

Kurnaz E., Kartal Baykan E., Türkyılmaz A., Yaralı O., Yavaş Abalı Z., Turan S., et al.

Hormone research in paediatrics , cilt.93, sa.9-10, ss.558-566, 2020 (SCI-Expanded, Scopus)

49. A rare cause of hypertension in childhood: Answers

Kucuk N., Yavas Abalı Z., ABALI S., Canpolat N., YEŞİL G., Turan S., et al.

Pediatric Nephrology , cilt.35, sa.1, ss.79-82, 2020 (SCI-Expanded, Scopus)

50. Global Practice of Glucocorticoid and Mineralocorticoid Treatment in Children and Adults with Congenital Adrenal Hyperplasia - Insights from the I-CAH Registry

Bacila I., Blankenstein O., Neumann U., Claahsen-van der Grinten H. L., Krone R., Acerini C., et al.

HORMONE RESEARCH IN PAEDIATRICS , cilt.91, ss.132-133, 2019 (SCI-Expanded, Scopus)

51. Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease.

Jolly A., Bayram Y., Turan S., Aycan Z., Tos T., Abali Z., et al.

The Journal of clinical endocrinology and metabolism , cilt.104, sa.8, ss.3049-3067, 2019 (SCI-Expanded, Scopus)

52. Comparison of the Clinical and Anthropometric Features of Treated and Untreated Girls with Borderline Early Puberty

Demirkale Z. H., Abali Z., BAŞ F., POYRAZOĞLU Ş., Bundak R., Darendeliler F.

Journal of Pediatric and Adolescent Gynecology , cilt.32, sa.3, ss.264-270, 2019 (SCI-Expanded, Scopus)

53. Evaluation of growth and puberty in a child with a novel TBX19 gene mutation and review of the literature

Abali Z., Yeşil G., Kırkgöz T., Kaygusuz S. B., Eltan M., Turan S., et al.

HORMONES-INTERNATIONAL JOURNAL OF ENDOCRINOLOGY AND METABOLISM , cilt.18, sa.2, ss.229-236, 2019 (SCI-Expanded, Scopus)

54. Incidence of Type 1 Diabetes in Children Aged Below 18 Years during 2013-2015 in Northwest Turkey

Poyrazoglu S., Bundak R., Abali Z., Onal H., Sarikaya S., Akgun A., et al.

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY , cilt.10, sa.4, ss.336-342, 2018 (SCI-Expanded, Scopus, TRDizin) Sürdürülebilir Kalkınma

55. Precocious or early puberty in patients with combined pituitary hormone deficiency due to POU1F1 gene mutation: case report and review of possible mechanisms

BAŞ F., Abalı Z., TOKSOY G., POYRAZOĞLU Ş., Bundak R., Güleç Ç., et al.

Hormones , cilt.17, sa.4, ss.581-588, 2018 (SCI-Expanded, Scopus)

56. Body mass index at the presentation of premature adrenarche is associated with components of metabolic syndrome at puberty

Kaya G., Yavas Abali Z., BAŞ F., POYRAZOĞLU Ş., Darendeliler F.

European Journal of Pediatrics , cilt.177, sa.11, ss.1593-1601, 2018 (SCI-Expanded, Scopus)

57. A rare cause of congenital adrenal hyperplasia: Clinical and genetic findings and follow-up characteristics of six patients with 17-hydroxylase deficiency including two novel mutations

Kardelen A. D., Toksoy G., Baş F., Abalı Z., Gençay G., Poyrazoğlu Ş., et al.

JCRPE Journal of Clinical Research in Pediatric Endocrinology , cilt.10, sa.3, ss.206-215, 2018 (SCI-Expanded, Scopus, TRDizin)

58. Prevalence, clinical characteristics and long-term outcomes of classical 11 β-hydroxylase deficiency (11BOHD) in Turkish population and novel mutations in CYP11B1 gene

Baş F., Toksoy G., Ergun-Longmire B., Uyguner Z. O., Abalı Z., Poyrazoğlu Ş., et al.

Journal of Steroid Biochemistry and Molecular Biology , cilt.181, ss.88-97, 2018 (SCI-Expanded, Scopus)

59. Two novel mutations in XYLT2 cause spondyloocular syndrome

Taylan F., Yavaş Abalı Z., Jäntti N., Güneş N., Darendeliler F., BAŞ F., et al.

American Journal of Medical Genetics, Part A , cilt.173, sa.12, ss.3195-3200, 2017 (SCI-Expanded, Scopus)

60. Clinical, biochemical and genetic features with nonclassical 21-hydroxylase deficiency and final height

Savas-Erdeve S., Cetinkaya S., Abali Z., Poyrazoglu S., Bas F., BERBEROĞLU M., et al.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , cilt.30, sa.7, ss.759-766, 2017 (SCI-Expanded, Scopus)

61. A critical appraisal of growth hormone therapy in growth hormone deficiency and turner syndrome patients in turkey

Abalı Z., Darendeliler F., Neyzi O.

JCRPE Journal of Clinical Research in Pediatric Endocrinology , cilt.8, sa.4, ss.490-495, 2016 (SCI-Expanded, Scopus, TRDizin)

62. The Etiology and Clinical Features of Non-CAH Gonadotropin-Independent Precocious Puberty: A Multicenter Study

Atay Z., Yesilkaya E., Erdeve S. S., Turan S., AKIN L., EREN E., et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM , cilt.101, sa.5, ss.1980-1988, 2016 (SCI-Expanded, Scopus)

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

Guran 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)

Hakemli Bilimsel Toplantılarda Yayımlanmış Bildiriler 23

1. **A rare cause of hypogonadotropic hypogonadism: KLB gene variant in a prepubertal boy evaluated for micropenis**

YAVAŞ ABALI Z., Yesilyurt A., DEMİRCİOĞLU S., Guran T., Haliloglu B., BEREKET A.

cilt.97, ss.301-302, (Özet Bildiri)

2. Prematür adrenarş tanılı kız çocuklarında 11-oksiandrojenlerin klinik ve biyokimyasal parametrelerle ilişkisi.

Güran T., Yavas Abali Z., Turan S., Bereket A., Eltan M.

XXV. Ulusal Pediatrik Endokrinoloji & Diyabet Kongresi., Antalya, Türkiye, 6 - 10 Ekim 2021, ss.1-3, (Tam Metin Bildiri)

3. Toplumumuzda Osteogenezis İmperfektada Genetik Nedenler ve Genotip Fenotip İlişkisi

Kaygusuz S. B., Alavanda C., Eltan M., Seven Menevse T., Abalı S., Yavaş Abalı Z., et al.

XXV. Ulusal Pediatrik Endokrinoloji & Diyabet Kongresi, Antalya, Türkiye, 06 Ekim 2021, (Tam Metin Bildiri)

4. Acetazolamide treatment in a patient with pseudohypoparathyroidism with venous calcification

SEVEN MENEVŞE T., GÜRPINAR TOSUN B., YAVAŞ ABALI Z., HELVACIOĞLU D., KAYGUSUZ S. B., ELTAN M., et al.

59th Annual European Society for Pediatric Endocrinology (ESPE) Conference, 22 - 26 Eylül 2021, (Özet Bildiri)

5. OSTEOGENEZİS İMPERFEKTA ÖN TANISIYLA SEVK EDİLEN OLGUDA SAPTANAN NADİR BİR İSKELET DİSPLAZİSİ: KAMPOMELİK DİSPLAZİ.

Güran T., Seven Menevşe T., Turan S., Bereket A., Eltan M., Yavas Abali Z.

4. Ege Endokrin Hastalıklar ve Genetik Sempozyumu. , İzmir, Türkiye, 12 - 13 Mart 2021, ss.1-2, (Tam Metin Bildiri)

6. SLC29A3 MUTASYONUNA BAĞLI HASTALIK SPEKTRUMU: DİSOSTEOSKLEROZİSDEN H SENDROMUNA

Güran T., Kaygusuz S. B., Bereket A., Turan S., Yavas Abali Z.

4. Ege Endokrin Hastalıklar ve Genetik Sempozyumu. , İzmir, Türkiye, 12 - 13 Mart 2021, ss.1-2, (Tam Metin Bildiri)

7. PREPUBERTAL JİNEKOMASTİLİ OLGUDA AROMATAZ FAZLALIĞI.

Güran T., Eltan M., Turan S., Bereket A., Yavas Abali Z.

4. Ege Endokrin Hastalıklar ve Genetik Sempozyumu. , İzmir, Türkiye, 12 - 13 Mart 2021, ss.1-2, (Özet Bildiri)

8. BMP15 GENİ İLE İLİŞKİLİ OVER DİSGENEZİSİNDE MUTASYON TİPİNE GÖRE KALITIM PATERNİ DEĞİŞİYOR MU?

Güran T., Turan S., Bereket A., Yavas Abali Z., Eltan M.

4. Ege Endokrin Hastalıklar ve Genetik Sempozyumu., İzmir, Türkiye, 12 - 13 Mart 2021, ss.1-2, (Tam Metin Bildiri)

9. Prader Willi Sendromlu Hastalarımızın Genetik, Endokrinolojik, Polisomnografik ve Otolaringolojik Değerlendirme Sonuçları

Seven Menevşe T., Baş S., Erdem Eralp E., Gürpınar Tosun B., Yavaş Abalı Z., Helvacıoğlu D., et al.

8. Marmara Pediatri Kongresi, İstanbul, Türkiye, 20 Şubat - 21 Mart 2021, ss.109-110, (Özet Bildiri)

10. Klasik tip 21 hidroksilaz eksikliğine bağlı konjenital adrenal hiperplazi tanılı olgularda puberte özellikleri,pubertal boy kazanımı ve final boya etki eden faktörlerin değerlendirilmesi: çok merkezli çalışma

YAVAŞ ABALI Z., YILDIZ M., BAŞ F., ÖNAL H., ABALI S., CİLSAAT G., et al.

XXIV.Ulusal Pediatrik Endokrinoloji ve Diyabet Çevrim İçi Kongresi, Türkiye, 30 Ekim - 01 Kasım 2020, ss.34, (Tam Metin Bildiri)

11. Steroid 11β-hidroksilaz eksikliği olan 100 çocuk hastanın klinik bulgularının genetik ve adrenokortikal hormonprofili ile ilişkisinin değerlendirilmesi

YILDIZ M., IŞIK E., TURAN S., KESKİN M., ÖZBEK M. N., BAŞ F., et al.

XXIV. Ulusal Pediatrik Endokrinoloji ve Diyabet Çevrim İçi Kongresi, Türkiye, 30 Ekim - 01 Kasım 2020, ss.12, (Tam Metin Bildiri)

12. Exploring trends in the glucocorticoid and mineralocorticoid treatment of congenital adrenal hyperplasia by analysing data from the I-CAH registry

Bacilia I., Blankenstein O., Neumann U., Claahsen Van Der Grinten H., Krone R., Bachega T., et al.

47th Meeting of the British Society for Paediatric Endocrinology and Diabetes, Vienna, Avusturya, 27 - 29 Kasım 2019, (Tam Metin Bildiri)

13. Rare Causes of Osteogenesis Imperfecta are Commonin Consanguineous Pedigrees

KAYGUSUZ S. B., ARMAN A., ABALI S., ATA P., KIRKGÖZ T., YAVAŞ ABALI Z., et al.

European Society for Paediatric Endocrinology (ESPE)58th Annual Meeting, Vienna, VİYANA, Avusturya, 19 - 21 Eylül 2019, (Tam Metin Bildiri)

14. A rare cause of hypophosphatemia: Raine Syndrome

ELTAN M., ATA P., KIRKGÖZ T., ALAVANDA C., KAYGUSUZ S. B., SEVEN M. T., et al.

European Society for Paediatric Endocrinology (ESPE)58th Annual Meeting, Vienna, VİYANA, Avusturya, 19 - 21 Eylül 2019, cilt.91, (Tam Metin Bildiri)

15. A Case Of Syndromic Hypopituitarism

KAYGUSUZ S. B., Arslan Ateş E., KIRKGÖZ T., ELTAN M., YAVAŞ ABALI Z., Helvacioglu D., et al.

European Society for Paediatric Endocrinology (ESPE)58th Annual Meeting, Vienna, 19 - 21 Eylül 2019, cilt.91, ss.1-682, (Özet Bildiri)

16. Genotype and Phenotype Characterization ofTurkish Patients with Vitamin D Dependent RicketsType IA

KAYGUSUZ S. B., ATA P., KIRKGÖZ T., YAVAŞ ABALI Z., ELTAN M., GÜRPINAR T. B., et al.

European Society for Paediatric Endocrinology (ESPE)58th Annual Meeting, Vienna, VİYANA, Avusturya, 19 - 21 Eylül 2019, cilt.91, (Tam Metin Bildiri)

17. Segmental Aşırı büyüme kliniği olan olguda somatik PIK3CA mutasyonu

Yavaş Abalı Z., Arslan Ateş E., Türkyılmaz A., Salman A., Kırkgöz T., Kaygusuz S. B., et al.

3. Ege Endokrin Hastalıklar ve Genetik Sempozyumu, İzmir, Türkiye, 7 - 09 Mart 2019, (Tam Metin Bildiri) Sürdürülebilir Kalkınma

18. Düşük renin düzeyi: endokrin hipertansiyon

abalı Z., ABALI S., KÜÇÜK N., CANPOLAT N., ÇİÇEK N., ALPAY H., et al.

Çocuk Endokrinolojisi Olgu Sunumları-9, İstanbul, Türkiye, 19 - 20 Ekim 2018, (Tam Metin Bildiri)

19. Düşük renin düzeyi: endokrin hipertansiyon

Abalı Z., Abalı S., Küçük N., Canpolat N., Çiçek Deniz N., Alpay H., et al.

Çocuk Endokrinolojisi Olgu Sunumları-9, İstanbul, Türkiye, 19 - 20 Ekim 2018, (Tam Metin Bildiri)

20. Recurrent Hypoglycemia in a Preschooler Girl with Overgrowth: Isolated ACTH-Deficiency with a Novel TPIT Mutation

Yavaş Abalı Z., Yeşil G., Kırkgoz T., Kaygusuz S. B., Demircioğlu S., Bereket A., et al.

HORMONE RESEARCH IN PAEDIATRICS, Athens, Yunanistan, 27 - 29 Eylül 2018, cilt.90, ss.132, (Tam Metin Bildiri)

21. 21 HİDROKSİLAZ EKSİKLİĞİNE BAĞLI KLASİK OLMAYAN KONJENİTAL ADRENAL HİPERPLAZİDE KLİNİK, LABORATUVAR, GENETİK ÖZELLİKLER, TEDAVİYE ALINAN YANITLAR VE ULAŞILAN FİNAL BOY VERİLERİ

Savaş Erdeve Ş., Çetinkaya S., Yavaş Abalı Z., Poyrazoğlu Ş., Baş F., Berberoğlu M., et al.

22. PEDİATRİK ENDOKRİNOLOJİ VE DİYABET DERNEĞİ, Antalya, Türkiye, 18 - 22 Nisan 2018, (Özet Bildiri)

22. PHENOTYPIC, HORMONAL AND MOLECULAR GENETIC CHARACTERISTICS OF 5-ALPHA REDUCTASE TYPE 2 DEFICIENCY PATIENTS: A MULTICENTER STUDY FROM TURKEY.

Abacı A., Çatlı G., Kırbıyık Ö., Şahin N., Yavaş Abalı Z., Ünal E., et al.

IMPE 2017, Washington, Amerika Birleşik Devletleri, 14 - 17 Eylül 2017, (Özet Bildiri)

23. Aetiological Spectrum and Clinical Characteristics of 129 Children with Gonadotropin Independent Precocious Puberty A Nationwide Cohort Study

Atay Z., Yeşilkaya E., Erdeve Ş., Akın L., Eren E., Döger E., et al.

54th Annual Meeting of the European Society for Paediatric Endocrinology (ESPE), Barcelona, İspanya, 1 - 03 Ekim 2015, (Özet Bildiri)

Kitaplar 3

Metrikler

Yayın

Yayın (WoS)

Yayın (Scopus)

Atıf (WoS)

220

H-İndeks (WoS)

Atıf (Scopus)

650

H-İndeks (Scopus)

Atıf (TrDizin)

H-İndeks (TrDizin)

Atıf (Diğer Toplam)

Açık Erişim

BM Sürdürülebilir Kalkınma Amaçları

Yayınlar & Eserler