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Your search keyword '"Yasemin Kendir-Demirkol"' showing total 13 results

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13 results on '"Yasemin Kendir-Demirkol"'

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

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

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

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

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

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

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

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

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

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

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

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

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

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