36 results on '"Torene, Rebecca"'
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2. Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts
3. Monoallelic MUTYH pathogenic variants ascertained via multi-gene hereditary cancer panels are not associated with colorectal, endometrial, or breast cancer
4. Uniparental disomy in a population of 32,067 clinical exome trios
5. Systematic analysis of variants escaping nonsense-mediated decay uncovers candidate Mendelian diseases
6. Mobile element insertion detection in 89,874 clinical exomes
7. Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases
8. IL-17A inhibition by secukinumab induces early clinical, histopathologic, and molecular resolution of psoriasis
9. Germline pathogenic variants identified in women with ovarian tumors
10. Federated analysis of the contribution of recessive coding variants to 29,745 developmental disorder patients from diverse populations
11. Early-onset breast cancer in a woman with a germline mobile element insertion resulting in BRCA2 disruption: a case report
12. O35: Feasibility of expanded newborn screening using genome sequencing for early actionable conditions in a diverse city
13. P248: A genotype-first approach to identifying treatable genomic conditions in a large healthcare-based population
14. Age-adjusted association of homologous recombination genes with ovarian cancer using clinical exomes as controls
15. Evaluation of 18,911 Individuals with Autism Reveals that Exome Analysis Provides Higher Diagnostic Rates and Reduced Time to Diagnosis than Traditional Testing Strategies (P1-1.Virtual)
16. Canakinumab reverses overexpression of inflammatory response genes in tumour necrosis factor receptor-associated periodic syndrome
17. Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral Palsy
18. 36. Classifying benign multigenic CNVs: Exploring available population databases
19. Integrating healthcare and research genetic data empowers the discovery of 49 novel developmental disorders
20. Chimerism involving a RB1 pathogenic variant in monochorionic dizygotic twins with twin–twin transfusion syndrome
21. Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases
22. Sex-Based Analysis of De Novo Variants in Neurodevelopmental Disorders
23. Integrating healthcare and research genetic data empowers the discovery of 28 novel developmental disorders
24. Additional file 2: of Age-adjusted association of homologous recombination genes with ovarian cancer using clinical exomes as controls
25. Additional file 1: of Age-adjusted association of homologous recombination genes with ovarian cancer using clinical exomes as controls
26. Additional file 4: of Age-adjusted association of homologous recombination genes with ovarian cancer using clinical exomes as controls
27. Additional file 6: of Age-adjusted association of homologous recombination genes with ovarian cancer using clinical exomes as controls
28. Additional file 3: of Age-adjusted association of homologous recombination genes with ovarian cancer using clinical exomes as controls
29. Additional file 5: of Age-adjusted association of homologous recombination genes with ovarian cancer using clinical exomes as controls
30. Genetic testing of >1300 patients with cerebral palsy reveals an etiology in one-third of cases, underscoring the need for broad genetic testing and a significant recurrence risk for families. (P4.6-028)
31. Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral Palsy.
32. Chimerism involving a RB1 pathogenic variant in monochorionic dizygotic twins with twin–twin transfusion syndrome.
33. Evidence for 28 genetic disorders discovered by combining healthcare and research data.
34. Integrating healthcare and research genetic data empowers the discovery of 49 novel developmental disorders
35. Omalizumab normalizes the gene expression signature of lesional skin in patients with chronic spontaneous urticaria: A randomized, double‐blind, placebo‐controlled study.
36. Canakinumab reverses overexpression of inflammatory response genes in tumour necrosis factor receptor-associated periodic syndrome
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