142 results on '"Akcay, Teoman"'
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2. Genetics of Sleep and Sleep Disorders
3. Contributors
4. Non-alcoholic fatty liver disease in obese children and the relationship between metabolic syndrome criteria
5. Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort
6. Systematic genetic testing for recessively inherited monogenic diabetes: a cross-sectional study in paediatric diabetes clinics
7. Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability
8. The Frequency and the Effects of 21-Hydroxylase Gene Defects in Congenital Adrenal Hyperplasia Patients
9. The role of leptin, soluble leptin receptor, resistin, and insulin secretory dynamics in the pathogenesis of hypothalamic obesity in children
10. The Use of Social Network in Daily Pediatric Practice and Education: Turkish Pediatric Atelier
11. Chapter 5 - Genetics of Sleep and Sleep Disorders
12. Clinical and molecular characterization of Turkish patients with familial hypomagnesaemia: novel mutations in TRPM6 and CLDN16 genes
13. Genome-Wide Homozygosity Analysis Reveals HADH Mutations as a Common Cause of Diazoxide-Responsive Hyperinsulinemic-Hypoglycemia in Consanguineous Pedigrees
14. Content analysis of food advertising in Turkish television
15. Hypogonadotropic Hypogonadism due to a Novel Missense Mutation in the First Extracellular Loop of the Neurokinin B Receptor
16. Significance of acanthosis nigricans in childhood obesity
17. Comprehensive Genetic Testing Shows One in Five Children with Diabetes and Non-Autoimmune Extra-Pancreatic Features Have Monogenic Aetiology
18. Revisiting Classical 3β-hydroxysteroid Dehydrogenase 2 Deficiency: Lessons from 31 Pediatric Cases
19. Leucine-sensitive hyperinsulinaemic hypoglycaemia in patients with loss of function mutations in 3-Hydroxyacyl-CoA Dehydrogenase
20. Glucocorticoid deficiency causes transcriptional and post-transcriptional reprogramming of glutamine metabolism
21. Emergence of insulin resistance following empirical glibenclamide therapy: a case report of neonatal diabetes with a recessive INS gene mutation
22. Distribution of mutations in genes known to be associated with familial idiopathic hypogonadotropic hypogonadism in a large cohort
23. Primary Adrenal Insufficiency in Children without Congenital Adrenal Hyperplasia: Molecular and Clinical Characterisation of a Nationwide Cohort
24. Suprasellar mass mimicking a hypothalamic glioma in a patient with a complete PROP1 deletion
25. Misunderstood about Obesity, Sleep Apnea and Metabolic Syndrome in Adolescents
26. Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia
27. Next-Generation Sequencing Reveals Deep Intronic Cryptic ABCC8 and HADH Splicing Founder Mutations Causing Hyperinsulinism by Pseudoexon Activation
28. Emergence of insulin resistance following empirical glibenclamide therapy: a case report of neonatal diabetes with a recessive <italic>INS</italic> gene mutation.
29. Is Metabolic Syndrome Associated with Obstructive Sleep Apnea in Obese Adolescents?
30. Identification Of A Novel Dentin Matrix Protein-1 (Dmp-1) Mutation And Dental Anomalies In A Kindred With Autosomal Recessive Hypophosphatemia
31. Molecular findings of three different male under virilization cases with 47,XXY karyotype
32. Emergence of insulin resistance following empirical glibenclamide therapy: a case report of neonatal diabetes with a recessive INSgene mutation
33. <i>MSX1</i> intronic CA repeat polymorphism is associated with non-syndromic cleft lip with/without palate in a Turkish family.
34. Congenital Hyperinsulinism and Cardiomyopathy
35. Regional dispersion of non-syndromic cleft lip withwithout palate Turkish children patients and possible geographical effects
36. Pitfalls in the diagnosis of thyroid dysgenesis by thyroid ultrasonography and scintigraphy
37. Cognitive and psychosocial development in children with familial hypomagnesaemia
38. Radiologic and hormonal evaluation of pituitary abnormalities in patients with Bardet–Biedl syndrome
39. Irradiation-Induced Growth Hormone Neurosecretory Disfunction In ALL Patients
40. Recessive versus imprinted disorder: consanguinity can impede establishing the diagnosis of autosomal dominant pseudohypoparathyroidism type Ib
41. Circulating Insulin-like Growth Factor Binding Protein-4
42. Identification of a novel dentin matrix protein-1 (DMP-1) mutation and dental anomalies in a kindred with autosomal recessive hypophosphatemia
43. T4 plus T3 Treatment in Children with Hypothyroidism and Inappropriately Elevated Thyroid-Stimulating Hormone despite Euthyroidism on T4 Treatment
44. Puberty in a case with novel 17-hydroxylase mutation and the putative role of estrogen in development of pubic hair
45. The role of leptin, soluble leptin receptor, resistin, and insulin secretory dynamics in the pathogenesis of hypothalamic obesity in children
46. Evaluation of Diagnosis and Treatment Results in Children with Graves' Disease with Emphasis on the Pubertal Status of Patients.
47. Alendronate Treatment in Children with Osteogenesis Imperfecta.
48. CLINICAL CHARACTERISTICS OF TURKISH CHILDREN AND ADOLESCENTS WITH TYPE 2 DIABETES
49. Alendronate treatment in children with osteogenesis imperfecta
50. Evaluation of molecular characteristics and steroid metabolomics in a large cohort of children with 3 beta-hydroxysteroid dehydrogenase 2 deficiency
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