50 results on '"Aycan, Zehra"'
Search Results
2. Clinical and radiologic evaluation of a Turkish family with hypochondroplasia and a rare FGFR3 variant
3. The effect of GnRH stimulation on AMH regulation in central precocious puberty and isolated premature thelarche
4. Evaluation of the pathophysiological role of Fetuin A levels in adolescents with polycystic ovary syndrome
5. Pyruvate carboxylase deficiency type C as a differential diagnosis of diabetic ketoacidosis
6. The alteration of IGF-1 levels and relationship between IGF-1 levels and growth velocity during GnRH analogue therapy
7. Experience of intravenous calcium treatment and long-term responses to treatment in a patient with hereditary vitamin D-resistant rickets resulting from a novel mutation
8. Evaluation of long-term follow-up and methimazole therapy outcomes of pediatric Graves’ disease: a single-center experience
9. Follow-up in children with non-obese and non-autoimmune subclinical hypothyroidism
10. SHOX gene deletion screening by FISH in children with short stature and Madelung deformity and their characteristics
11. Clinical follow-up data and the rate of development of precocious and rapidly progressive puberty in patients with premature thelarche
12. Response to growth hormone treatment in very young patients with growth hormone deficiencies and mini-puberty
13. Vaginal bleeding and a giant ovarian cyst in an infant with 21-hydroxylase deficiency
14. AMH levels in girls with various pubertal problems
15. The variable clinical phenotype of three patients with hepatic glycogen synthase deficiency
16. Type 1 rhizomelic chondrodysplasia punctata with a homozygous PEX7 mutation
17. Clinical, biochemical and genetic features with nonclassical 21-hydroxylase deficiency and final height
18. Effects of 1-year growth hormone replacement therapy on thyroid volume and function of the children and adolescents with idiopathic growth hormone deficiency
19. Treatment experience and long-term follow-up data in two severe neonatal hyperparathyroidism cases
20. Maturity onset diabetes of youth (MODY) in Turkish children: sequence analysis of 11 causative genes by next generation sequencing
21. Investigation of autoimmune diseases accompanying Hashimoto’s thyroiditis in children and adolescents and evaluation of cardiac signs
22. 17βHSD-3 enzyme deficiency due to novel mutations in the HSD17B3 gene diagnosed in a neonate
23. Investigation of androgen receptor gene mutations in a series of 21 patients with 46,XY disorders of sex development
24. Effects of GnRH analogue treatment on anterior pituitary hormones in children with central precocious puberty
25. The use of pamidronate for acute vitamin D intoxication, clinical experience with three cases
26. 17α-Hydroylase/17,20-lyase deficiency related to P.Y27*(c.81C>A) mutation in CYP17A1 gene
27. Rett syndrome and precocious puberty association
28. Risk factors affecting the development of nephrocalcinosis, the most common complication of hypophosphatemic rickets
29. A nonsense thyrotropin receptor gene mutation (R609X) is associated with congenital hypothyroidism and heart defects
30. Diseases accompanying congenital hypothyroidism
31. A common thyroid peroxidase gene mutation (G319R) in Turkish patients with congenital hypothyroidism could be due to a founder effect
32. A truncating DUOX2 mutation (R434X) causes severe congenital hypothyroidism
33. Evaluation of bone mineral density in children with type 1 diabetes mellitus
34. Report of the first case of precocious puberty in Rett syndrome
35. Diabetes mellitus with Laron syndrome: case report
36. Thyroid nodules in children and adolescents: a single institution’s experience
37. Audiologic evaluation in pediatric patients with type 1 diabetes mellitus
38. Mild and severe congenital primary hypothyroidism in two patients by thyrotropin receptor (TSHR) gene mutation
39. TSHR is the main causative locus in autosomal recessively inherited thyroid dysgenesis
40. Assessment of the 21-hydroxylase deficiency and the adrenal functions in young females with Turner syndrome
41. A pediatric Conn syndrome case
42. Seizure due to somatostatin analog discontinuation in a case diagnosed as congenital hyperinsulinism novel mutation
43. A case of Langerhans cell histiocytosis with thyroid involvement
44. Vitamin D status and insulin requirements in children and adolescent with type 1 diabetes
45. A new variant of a known mutation in two siblings with permanent neonatal diabetes mellitus
46. The Evaluation of the Adrenal and Thyroid Axes and Glucose Metabolism after Burn Injury in Children
47. A Case Report of Neonatal Diabetes Due to Neonatal Hemochromatosis
48. Incidence of Iodine Deficiency in Patients Presenting with Goitre - Discrepancy Between Clinical and Ultrasonographic Evaluation of the Thyroid: Comparison of Patients With and Without Autoimmune Thyroiditis - Clinical, Hormonal and Urinary Iodine Excretion Studies
49. Experience with Long-term Glucocorticoid Treatment in Congenital Adrenal Hyperplasia: Growth Pattern Compared with Genetic Height Potential
50. Syndrome of Congenital Adrenocortical Unresponsiveness to ACTH. Report of Six Patients
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