16 results on '"Hardcastle, Claire"'
Search Results
2. Using computational approaches to enhance the interpretation of missense variants in the PAX6 gene
3. Clinical utility of genetic testing in 201 preschool children with inherited eye disorders
4. Correction: Clinical utility of genetic testing in 201 preschool children with inherited eye disorders
5. The Role of Genetic Testing in Children Requiring Surgery for Ectopia Lentis
6. EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders.
7. Assessing the Pathogenicity of In-Frame CACNA1F Indel Variants Using Structural Modeling
8. Embryonal sarcoma of the liver in a girl with Cockayne syndrome
9. EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders
10. Assessing the Pathogenicity of In-Frame CACNA1FIndel Variants Using Structural Modeling
11. Comparison of in Silico Strategies to Prioritize Rare Genomic Variants Impacting RNA Splicing for the Diagnosis of Genomic Disorders
12. Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders
13. Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders.
14. Panel-Based Clinical Genetic Testing in 85 Children with Inherited Retinal Disease
15. Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease
16. Embryonal sarcoma of the liver in a girl with Cockayne syndrome.
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