177 results on '"Demirbilek, Huseyin"'
Search Results
2. The effects of the covid-19 pandemic on puberty: a cross-sectional, multicenter study from Turkey
3. Severe Early-Onset Obesity and Diabetic Ketoacidosis due to a Novel Homozygous c.169C>T p.Arg57* Variant in CEP19 Gene
4. Hyperinsulinaemic hypoglycaemia in children and adults
5. Severe Early-Onset Obesity and Diabetic Ketoacidosis due to a Novel Homozygous c.169C>T p.Arg57* Variant in CEP19 Gene.
6. Managing Severe Hypoglycaemia in Patients with Diabetes: Current Challenges and Emerging Therapies
7. 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
8. Author's reply "Comment on diagnostic utility of the average peak LH levels measured during GnRH stimulation test".
9. Managing Severe Hypoglycaemia in Patients with Diabetes: Current Challenges and Emerging Therapies
10. Incidence and Risk Factors of Hyperglycemia in Severe Multisystem Inflammatory Syndrome in Children: A Retrospective Case-Control Study
11. Persistent hyperinsulinaemic hypoglycaemia in infancy
12. The role of the resistive index in Hashimoto's thyroiditis: a Sonographic pilot study in children
13. The Effects of the Covid-19 Pandemic on Puberty: A cross-sectional, Multicenter Study from Turkey
14. Revisiting the annual incidence of Type 1 Diabetes Mellitus in children from the Southeastern Anatolian Region of Turkey: A Regional report
15. Clinical and genetic heterogeneity of HNF4A/HNF1A mutations in a multicentre paediatric cohort with hyperinsulinaemic hypoglycaemia
16. Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort
17. Normosmic idiopathic hypogonadotropic hypogonadism due to a novel homozygous nonsense c.C969A (p.Y323X) mutation in the KISS1R gene in three unrelated families
18. Systematic genetic testing for recessively inherited monogenic diabetes: a cross-sectional study in paediatric diabetes clinics
19. Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability
20. Familial Isolated Growth Hormone Deficiency Due to A Novel Homozygous Missense Mutation in the Growth Hormone Releasing Hormone Receptor Gene: Clinical Presentation With Hypoglycemia
21. Long-Term Follow-Up of Children With Congenital Hyperinsulinism on Octreotide Therapy
22. A rare and preventable aetiology of neurodevelopmental delay and epilepsy: familial glucocorticoid deficiency
23. Clinical, biochemical, and echocardiographic evaluation of neonates with vitamin D deficiency due to maternal vitamin D deficiency
24. Clinical and Hormonal Profiles Correlate With Molecular Characteristics in Patients With 11β-Hydroxylase Deficiency
25. Clinical characteristics and molecular genetic analysis of a cohort with idiopathic congenital hypogonadism
26. Assessment of gonadotrophin suppression in girls treated with GnRH analogue for central precocious puberty; validity of single luteinizing hormone measurement after leuprolide acetate injection
27. Clinical Characteristics and Long-term Follow-up of Patients with Diabetes Due To PTF1A Enhancer Mutations
28. Neonatal diabetes due to homozygousINSgene promoter mutations: Highly variable phenotype, remission and early relapse during the first 3 years of life
29. A novel diagnostic tool for the evaluation of hypothalamic-pituitary region and diagnosis of growth hormone deficiency: pons ratio
30. Clinical, biochemical, and echocardiographic evaluation of neonates with vitamin D deficiency due to maternal vitamin D deficiency.
31. A Distinct Clinical Phenotype in Two Siblings with X-linked Adrenoleukodystrophy
32. The Spectrum From Classic to Non-Classic 11β-Hydroxylase Deficiency
33. Cystoscopy-Guided Laparoscopic Excision of Prostatic Utricle: Report of a Case
34. Ion Transporters, Channelopathies, and Glucose Disorders
35. Comprehensive Genetic Testing Shows One in Five Children with Diabetes and Non-Autoimmune Extra-Pancreatic Features Have Monogenic Aetiology
36. Systemic Pseudohypoaldosteronism Type 1 due to 3 Novel Mutations in SCNN1Aand SCNN1BGenes
37. Neonatal diabetes due to homozygous INS gene promoter mutations: Highly variable phenotype, remission and early relapse during the first 3 years of life.
38. Congenital hyperinsulinism and evolution to sulfonylurea-responsive diabetes later in life due to a novel homozygous p.L171F ABCC8 mutation
39. Permanent neonatal diabetes mellitus and neurological abnormalities due to a novel homozygous missense mutation inNEUROD1
40. Kallmann Syndrome Due to a Homozygous Missense c.217C > T (p.R73C) Mutation Detected in the Exon-2 of the PROK2 Gene
41. Diagnosis and treatment of hyperinsulinaemic hypoglycaemia and its implications for paediatric endocrinology
42. Primary Adrenal Insufficiency in Children without Congenital Adrenal Hyperplasia: Molecular and Clinical Characterisation of a Nationwide Cohort
43. 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
44. Severe Hypercalcemia in a Child With Acute Lymphoblastic Leukemia Relapse
45. Oncologic manifestations in children with neurofibromatosis type 1 in Turkey
46. Severe hyponatremia and repeated intestinal resections for intestinal dysmotility mimicking congenital aganglionic megacolon due to delay in the diagnosis of congenital hypothyroidism
47. A novel ALMS1 homozygous mutation in two Turkish brothers with Alström syndrome
48. Clinical characteristics and molecular genetic analysis of 22 patients with neonatal diabetes from the South-Eastern region of Turkey: predominance of non-KATP channel mutations
49. Normosmic idiopathic hypogonadotropic hypogonadism due to a novel homozygous nonsense c.C969A (p.Y323X) mutation in theKISS1Rgene in three unrelated families
50. Clinical characteristics and phenotype–genotype analysis in Turkish patients with congenital hyperinsulinism; predominance of recessive KATP channel mutations
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.