11 results on '"Perrett, Daniel"'
Search Results
2. DECIPHER: Improving Genetic Diagnosis Through Dynamic Integration of Genomic and Clinical Data
3. Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland
4. Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease mechanisms
5. Optimizing the Diagnosis of Rare Genomic Disease in the UK and Ireland
6. Optimising diagnostic yield in highly penetrant genomic disease
7. DECIPHER: Supporting the interpretation and sharing of rare disease phenotype‐linked variant data to advance diagnosis and research
8. DECIPHER: Supporting the interpretation and sharing of rare disease phenotype-linked variant data to advance diagnosis and research
9. Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships—allelic requirement, inheritance modes, and disease mechanisms
10. DECIPHER: Supporting the interpretation and sharing of rare disease phenotype-linked variant data to advance diagnosis and research
11. Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease mechanisms.
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