428 results on '"Alikaşifoğlu A"'
Search Results
2. Cardiovascular Risk Factors in Adolescents with Type 1 Diabetes: Prevalence and Gender Differences
3. Joint Time-Vertex Fractional Fourier Transform
4. Feminizing Adrenocortical Tumors as a Rare Etiology of Isosexual/Contrasexual Pseudopuberty
5. Pediatric Residency Training in Türkiye
6. Sleep disordered breathing in patients with Prader willi syndrome: Impact of underlying genetic mechanism
7. Basal Serum Thyroxine Level should Guide Initial Thyroxine Replacement Dose in Neonates with Congenital Hypothyroidism
8. Genetic disorders with symptoms mimicking rheumatologic diseases: A single-center retrospective study
9. Treatment with Depot Leuprolide Acetate in Girls with Idiopathic Precocious Puberty: What Parameter should be Used in Deciding on the Initial Dose?
10. Intrafamilial variability of XYLT2-related spondyloocular syndrome
11. Hyperphosphatasia with mental retardation syndrome type 4 In two siblings-expanding the phenotypic and mutational spectrum
12. A novel NKX3-2 mutation associated with perinatal lethal phenotype of spondylo-megaepiphyseal-metaphyseal dysplasia in a neonate
13. Cardiovascular Risk Factors in Adolescents with Type 1 Diabetes: Prevalence and Gender Differences.
14. Fragile x-associated premature ovarian failure in a large Turkish cohort: Findings of Hacettepe Fragile X Registry
15. Psychosocial Impact of the COVID-19 Pandemic on Children with Congenital Adrenal Hyperplasia and Their Families
16. Clinical, genetic, and structural basis of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency
17. Clinical and laboratory parameters predicting a requirement for the reevaluation of growth hormone status during growth hormone treatment: Retesting early in the course of GH treatment
18. HERC1 mutations in idiopathic intellectual disability
19. Pediatric Residency Training in Türkiye.
20. Approach to pheochromocytoma and paraganglioma in children and adolescents: A retrospective clinical study from a tertiary care center
21. Genetic testing for DADA2: How can we avoid missing patients?
22. Gorlin Syndrome in Eleven Patients
23. Challenges During the Coronavirus Disease 2019 Pandemic: Diabetes Control and Psychosocial Issues in Children with Type 1 Diabetes Mellitus and Their Mothers.
24. Hyperinsulinism May Be Underreported in Hypoglycemic Patients with Phosphomannomutase 2 Deficiency
25. Homozygous indel mutation in CDH11 as the probable cause of Elsahy–Waters syndrome
26. İntravenöz yolla yüksek dozda ve orta-uzun süreli verilen deksametazon ve metilprednizolon tedavilerinin hipotalamus-hipofiz-adrenal (HHA) aksa etkisi
27. A Baseline Algorithm for Molecular Diagnosis of Genetic Eye Diseases: Ophthalmologist’s Perspective
28. CYP1A1 polymorphism in adolescents with polycystic ovary syndrome
29. Diagnostic yield of microarrays in individuals with non‐syndromic developmental delay and intellectual disability
30. Psychosocial Impact of the COVID-19 Pandemic on Children with Congenital Adrenal Hyperplasia and Their Families.
31. Identification of point mutations and large rearrangements in the BRCA1 gene in 667 Turkish unselected ovarian cancer patients
32. Basal Serum Thyroxine Level should Guide Initial Thyroxine Replacement Dose in Neonates with Congenital Hypothyroidism
33. Investigation of Genetic Causes in a Developmental Disorder: Oculoauriculovertebral Spectrum
34. Metabolic Syndrome and its Relation with Eye Diseases: Mini-Review
35. sj-docx-2-cpc-10.1177_10556656211038115 - Supplemental material for Investigation of Genetic Causes in a Developmental Disorder: Oculoauriculovertebral Spectrum
36. sj-docx-1-cpc-10.1177_10556656211038115 - Supplemental material for Investigation of Genetic Causes in a Developmental Disorder: Oculoauriculovertebral Spectrum
37. Investigation of Genetic Causes in a Developmental Disorder: Oculoauriculovertebral Spectrum.
38. Hypertrichosis: the possible side effect of cyclosporin in an infant with hemophagocyticlymphohistiocytosis receiving HLH-2004 chemotherapy protocol
39. Rare variant analysis in CAD related loci in patients with premature CAD reveals possible targets for further functional studies
40. CYP1A1 gene polymorphism and polycystic ovary syndrome
41. Neurochemical evaluation of brain function with 1H magnetic resonance spectroscopy in patients with fragile X syndrome
42. Further expanding the mutational spectrum of brain abnormalities, neurodegeneration, and dysosteosclerosis: A rare disorder with neurologic regression and skeletal features
43. Diagnostic yield of whole‐exome sequencing in non‐syndromic intellectual disability
44. Influence of Reduced Folate Carrier and Aminoimidazole Carboxamide Ribonucleotide Transformylase gene polymorphisms on the efficacy of methotrexate in juvenile idiopathic arthritis
45. Feminizing Adrenocortical Tumors as a Rare Etiology of Isosexual/Contrasexual Pseudopuberty.
46. Sexual abuse among female high school students in Istanbul, Turkey
47. Thrombin-activatable fibrinolysis inhibitor activity and global fibrinolytic capacity in Type 1 diabetes: Evidence for normal fibrinolytic state
48. Isodicentric Y (p11.32) chromosome in an infant with mixed gonadal dysgenesis
49. Selective Feticide of The Aneuploid Fetus in a Twin Pregnancy: A Case Reports
50. Iodine deficiency in Turkey
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