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44 results on '"Yasemin Kendir Demirkol"'

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1. Lack of association between classical HLA genes and asymptomatic SARS-CoV-2 infection

2. The musculoskeletal system manifestations in children with familial Mediterranean fever

3. The origin of SARS-CoV-2 in Istanbul: Sequencing findings from the epicenter of the pandemic in Turkey

4. IFN-γR1 (CD119) ve IL-12Rβ1 (CD212) Eksikliğinin Akan Hücre Ölçer ile Analizi

6. Human IRF1 governs macrophagic IFN-γ immunity to mycobacteria

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

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

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

10. Investigation of association between ABO blood groups and COVID-19 clinical severity

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

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

14. Inflammatory Bowel Disease and Guillain Barre Syndrome in FCHO1 Deficiency

15. MİKOBAKTERİYEL HASTALIKLARA MENDEL DUYARLILIĞI HASTALARININ GENETİK VE KLİNİK PROFİLİ; TEK MERKEZ DENEYİMİ

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

17. A boy with a novel homozygous ZAP70 mutation presenting with a dermatological phenotype and postnatal decrease in CD8 + T cells

18. Author response for 'A boy with a novel homozygous ZAP70 mutation presenting with a dermatological phenotype and postnatal decrease in CD8 + T cells'

19. Johanson–Blizzard's Syndrome with a Novel UBR1 Mutation

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

21. The origin of SARS-CoV-2 in Istanbul: Sequencing findings from the epicenter of the pandemic in Turkey

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

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

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

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

27. A Patient With Novel Icos Mutation Presented With Progressive Loss Of B Cells

28. Genomic Diversity of the SARS-CoV-2 in Turkey and the Impact of Virus Genome Mutations on Clinical Outcomes

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

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

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

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

33. Author response for 'Parents of ataxia‐telangiectasia patients display a distinct cellular immune phenotype mimicking ATM mutated patients'

34. COVID-19 PCR Test Performance for Samples Stored at Ambient Temperature

35. The Musculoskeletal System Manifestations in Children with Familial Mediterranean Fever

36. Responding to COVID-19 in Istanbul: Perspective from genomic laboratory

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

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

39. A Case of Leukoencephalopathy and Small Vessels Disease Caused by a Novel HTRA1 Homozygous Mutation

40. Novel and recurrent COL11A1 and COL2A1 mutations in the Marshall–Stickler syndrome spectrum

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

42. A Rare Complication of Brucellosis: Pseudotumor Cerebri

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

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

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