35 results on '"Garrec, Céline"'
Search Results
2. A de novo pathogenic variant in the MSH6 gene in a 52 years-old woman
3. Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease
4. Characterization of genetic variants in the EGLN1/PHD2 gene identified in a European collection of patients with erythrocytosis
5. Germline JAK2 E846D Substitution as the Cause of Erythrocytosis?
6. Sensitive detection methods are key to identify secondary EGFR c.2369C>T p.(Thr790Met) in non-small cell lung cancer tissue samples
7. Comprehensive in silico and functional studies for classification of EPAS1/HIF2A genetic variants identified in patients with erythrocytosis
8. In silico and Functional Studies for Classification of EPAS1/HIF2A Genetic Variants Identified in Patients with Erythrocytosis
9. Unexpected frequency of Upshaw-Schulman syndrome in pregnancy-onset thrombotic thrombocytopenic purpura
10. A de novo pathogenic variant in the MSH6 gene in a 52 years-old woman
11. TUMOSPEC: A Nation-Wide Study of Hereditary Breast and Ovarian Cancer Families with a Predicted Pathogenic Variant Identified through Multigene Panel Testing
12. Increased incidence of germline PIEZO1 mutations in individuals with idiopathic erythrocytosis
13. Low incidence of EPOR mutations in idiopathic erythrocytosis
14. Additional file 2 of Sensitive detection methods are key to identify secondary EGFR c.2369C>T p.(Thr790Met) in non-small cell lung cancer tissue samples
15. Additional file 1 of Sensitive detection methods are key to identify secondary EGFR c.2369C>T p.(Thr790Met) in non-small cell lung cancer tissue samples
16. Additional file 4 of Sensitive detection methods are key to identify secondary EGFR c.2369C>T p.(Thr790Met) in non-small cell lung cancer tissue samples
17. Additional file 6 of Sensitive detection methods are key to identify secondary EGFR c.2369C>T p.(Thr790Met) in non-small cell lung cancer tissue samples
18. Additional file 3 of Sensitive detection methods are key to identify secondary EGFR c.2369C>T p.(Thr790Met) in non-small cell lung cancer tissue samples
19. Additional file 5 of Sensitive detection methods are key to identify secondary EGFR c.2369C>T p.(Thr790Met) in non-small cell lung cancer tissue samples
20. Diagnosis of exon 12‐positive polycythemia vera rescued by NGS
21. Absence of CALR Mutations in Idiopathic Erythrocytosis Patients with Low Serum Erythropoietin Levels
22. High HFE mutation incidence in idiopathic erythrocytosis
23. Increased incidence of germline PIEZO1mutations in individuals with idiopathic erythrocytosis
24. Gene panel sequencing in idiopathic erythrocytosis
25. Performance of multiplicom's BRCA MASTR Dx kit on the detection of BRCA1 and BRCA2 mutations in fresh frozen ovarian and breast tumor samples
26. ADAMTS13 Gene Mutations Influence ADAMTS13 Conformation and Disease Age-Onset in the French Cohort of Upshaw-Schulman Syndrome.
27. Deep Learning for Detecting BRCAMutations in High-Grade Ovarian Cancer Based on an Innovative Tumor Segmentation Method From Whole Slide Images
28. Next Generation Sequencing Is a Useful Tool for the Diagnosis of Congenital/Idiopathic Erythrocytoses
29. In silicoand Functional Studies for Classification of EPAS1/HIF2AGenetic Variants Identified in Patients with Erythrocytosis
30. BRCA Share: A Collection of Clinical BRCA Gene Variants.
31. Identification of a new VHLexon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease
32. High HFE mutation incidence in idiopathic erythrocytosis.
33. Low incidence of EPOR mutations in idiopathic erythrocytosis.
34. Gene panel sequencing in idiopathic erythrocytosis.
35. Evaluation of the colorectal cancer risk conferred by rare UNC5C alleles.
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