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Your search keyword '"Perrett, Daniel"' showing total 13 results

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1. Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships—allelic requirement, inheritance modes, and disease mechanisms

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. Optimising diagnostic yield in highly penetrant genomic disease

8. Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

9. Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

10. Registered access: authorizing data access

11. Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders

12. Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study

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