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20 results on '"Yasemin Kendir-Demirkol"'

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1. Familial early-onset obesity in Turkish children: variants and polymorphisms in the melanocortin-4 receptor (MC4R) gene

2. Expanding the Clinical and Immunological Phenotypes and Natural History of MALT1 Deficiency

3. Mutational spectrum of congenital long QT syndrome in Turkey; identification of 12 novel mutations across KCNQ1, KCNH2, SCN5A, KCNJ2, CACNA1C , and CALM1

4. Comparing the levels of CTLA-4-dependent biological defects in patients with LRBA deficiency and CTLA-4 insufficiency

5. Clinical evaluation of torpedo maculopathy in an infant population with additional genetic testing for NEXMIF mutation

6. Genetic panel screening in patients with clinically unclassified systemic autoinflammatory diseases

7. Evolution and long-term outcomes of combined immunodeficiency due to CARMIL2 deficiency

8. Steroid hormone profiles and molecular diagnostic tools in pediatric patients with non-CAH primary adrenal insufficiency

9. Catch-up Growth and Discontinuation of Fludrocortisone Treatment in Aldosterone Synthase Deficiency

10. Respiratory viral infections in otherwise healthy humans with inherited IRF7 deficiency

11. Impaired IL-23-dependent induction of IFN-gamma underlies mycobacterial disease in patients with inherited TYK2 deficiency

13. Parents of ataxia-telangiectasia patients display a distinct cellular immune phenotype mimickingATM-mutated patients

14. Comparison of the clinical diagnostic criteria and the results of the next-generation sequence gene panel in patients with monogenic systemic autoinflammatory diseases

15. COVID-19 PCR test performance on samples stored at ambient temperature

16. ADA2 Deficiency: Case Series of Five Patients with Varying Phenotypes

17. Does sampling saliva increase detection of SARS-CoV-2 by RT-PCR? Comparing saliva with oro-nasopharyngeal swabs

18. Novel and recurrent XYLT1 mutations in two Turkish families with Desbuquois dysplasia, type 2

19. Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability

20. Auto-antibodies against type I IFNs in patients with life-threatening COVID-19

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