13 results on '"Costain, A."'
Search Results
2. P249: Gaps in the phenotype descriptions of ultra-rare genetic conditions: Review and multi-center consensus reporting guidelines
3. P305: Evaluation of the feasibility, diagnostic yield, and utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): An international pilot study
4. O05: A micro-costing and cost-effectiveness analysis of genome sequencing vs exome sequencing in pediatric rare diseases
5. P516: The Genetics Navigator: The development and usability testing of a new patient-facing digital health application to support clinical genetic testing
6. P540: Genome-wide Sequencing Ontario (GSO): Canada’s first provincial clinical genome-wide sequencing service
7. P543: Design and early findings from a mixed-methods study exploring the genomics era role of the medical geneticist in Canada
8. P616: Genome-wide Sequencing Ontario (GSO): Insight into Ontario’s rare disease landscape
9. P829: Comparative medical genetics to facilitate the interpretation of rare missense variation
10. P101: Determining the impact of rare canonical splice site variants: A comparison of functional and in silico methods
11. O47: Leveraging somatic cancer mutation data to predict the pathogenicity of germline missense variants
12. P101: Determining the impact of rare canonical splice site variants: A comparison of functional and in silico methods
13. O47: Leveraging somatic cancer mutation data to predict the pathogenicity of germline missense variants*
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