38 results on '"Klonowska, Katarzyna"'
Search Results
2. Mild TSC phenotype and non-penetrance associated with a frameshift variant in TSC2 prompts caution in evaluating pathogenicity of frameshift variants
3. TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study
4. Large-scale meta-analysis of mutations identified in panels of breast/ovarian cancer-related genes — Providing evidence of cancer predisposition genes
5. Ultrasensitive profiling of UV-induced mutations identifies thousands of subclinical facial tumors in tuberous sclerosis complex
6. Cover Image
7. Comprehensive genetic and phenotype analysis of 95 individuals with mosaic tuberous sclerosis complex
8. Molecular EPISTOP, a comprehensive multi-omic analysis of blood from Tuberous Sclerosis Complex infants age birth to two years
9. Table S6 from Phase II Clinical Trial of Everolimus in a Pan-Cancer Cohort of Patients with mTOR Pathway Alterations
10. Fig S1 from Phase II Clinical Trial of Everolimus in a Pan-Cancer Cohort of Patients with mTOR Pathway Alterations
11. Suppl File from Phase II Clinical Trial of Everolimus in a Pan-Cancer Cohort of Patients with mTOR Pathway Alterations
12. TSC2 inactivation, low mutation burden and high macrophage infiltration characterise hepatic angiomyolipomas.
13. Building knowledge capacity among patients and healthcare professionals to strengthen coordinated care in Poland using the experiences of the Scirocco Exchange project
14. Patients' health status following health check within POZ PLUS
15. "The POZ PLUS health-check-up questionnaire as a useful tool to assess the health condition of patients"
16. eP120: Predicted frameshift variant in TSC2 associated with mild TSC phenotype and non-penetrance
17. Sporadic facial angiofibroma and sporadic angiomyolipoma mimicking tuberous sclerosis complex
18. Sporadic facial angiofibroma and sporadic angiomyolipoma mimicking tuberous sclerosis complex.
19. Phase II Clinical Trial of Everolimus in a Pan-Cancer Cohort of Patients with mTOR Pathway Alterations
20. Performance of In Silico Prediction Tools for the Detection of Germline Copy Number Variations in Cancer Predisposition Genes in 4208 Female Index Patients with Familial Breast and Ovarian Cancer
21. Celecoxib in lymphangioleiomyomatosis: results of a phase I clinical trial
22. Genetic Etiologies, Diagnosis, and Treatment of Tuberous Sclerosis Complex
23. Primary Health Care PLUS project in Poland: disease management programs
24. BARD1 is a Low/Moderate Breast Cancer Risk Gene: Evidence Based on an Association Study of the Central European p.Q564X Recurrent Mutation
25. Meeting abstracts from the Annual Conference on Hereditary Cancers 2015
26. The 30 kb deletion in the APOBEC3 cluster decreases APOBEC3A and APOBEC3B expression and creates a transcriptionally active hybrid gene but does not associate with breast cancer in the European population
27. MTTE: an innovative strategy for the evaluation of targeted/exome enrichment efficiency
28. Oncogenomic portals for the visualization and analysis of genome-wide cancer data
29. Cancer predisposing BARD1 mutations affect exon skipping and are associated with overexpression of specific BARD1 isoforms
30. High copy number variation of cancer-related microRNA genes and frequent amplification of DICER1 and DROSHA in lung cancer
31. Analysis of large mutations in BARD1 in patients with breast and/or ovarian cancer: the Polish population as an example
32. The Use of a Two-Tiered Testing Strategy for the Simultaneous Detection of Small EGFR Mutations and EGFR Amplification in Lung Cancer
33. Paradygmat męskości w kontekście przemian obyczajowości seksualnej na przykładzie heteroseksualnej relacji sponsoringu seksualnego
34. An MLPA-based approach for high-resolution genotyping of disease-related multi-allelic CNVs
35. eP120: Predicted frameshift variant in TSC2associated with mild TSC phenotype and non-penetrance
36. Oncogenomic portals for the visualization and analysis of genome-wide cancer data.
37. The modern methods of gastric imaging.
38. Dynamic CT of hepatic cirrhosis.
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