21 results on '"Magdalena Walkiewicz"'
Search Results
2. The contribution of rare copy number variants in FAS toward pathogenesis of autoimmune lymphoproliferative syndrome
3. Clinical relevance of somatic mosaic variants detected from exome sequencing data
4. Chromosomal microarray analysis reveals copy number variants contribute to disease in children with suspected inborn errors of immunity
5. Patient Perspectives on Adaptation to Inborn Errors of Immunity
6. Atypical Presentations of Hypomorphic X-Linked SCID
7. High rate of molecular diagnosis among individuals with alopecia with known or suspected inborn errors of immunity
8. Deep sequencing refines prior genomic analysis in families with apparent gonadal mosaicism
9. Curious cases of GATA2 deficiency: clonal evolution or dual diagnoses?
10. Variable Clinical Presentation in Individuals with Truncating Variants in DDX41
11. T61. PERSONAL UTILITY OF POLYGENIC RISK SCORES: ATTITUDES AND INTEREST AMONG INDIVIDUALS WITH MAJOR DEPRESSIVE DISORDER AND TREATMENT RESISTANT DEPRESSION
12. PRESENTING A MULTIDISCIPLINARY FRAMEWORK FOR RESEARCH GENOME SEQUENCING COUPLED WITH GENETIC COUNSELING AND RETURN OF CLINICALLY VALIDATED PRIMARY AND SECONDARY FINDINGS FOR INDIVIDUALS WITH PSYCHIATRIC DISORDERS
13. CONTRIBUTION OF GENOME SEQUENCING IN THE EVALUATION OF CHILDREN AND ADOLESCENTS WITH SUSPECTED SERONEGATIVE AUTOIMMUNE ENCEPHALITIS
14. Allergic Bronchopulmonary Aspergillosis in Patients with Dominant Negative IL6ST
15. eP047: Germline cancer predisposition variants in a cohort of early-onset Merkel cell carcinoma patients
16. eP400: Utility of genome sequencing in CNV identification in an immune disorders cohort
17. OP059: Clinical impact of a targeted pharmacogenomic assessment within a cohort of individuals with suspected inborn errors of immunity
18. OP019: A tertiary care clinical sequencing program for patients with suspected immune defects: Results from the first 1000 families
19. eP133: Genome sequencing and chromosomal microarray as a tool for evaluating phenotypic variability in individuals with X and Y chromosome variations
20. eP083: Chromosomal microarray analysis as a supplement to exome sequencing in pediatric patients with suspected inborn errors of immunity
21. eP352: Systematic exploration of mosaic variants detected in blood samples from a primary immunodeficiency cohort referred for research exome sequencing
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