Simon Brent
- Not all SCN1A epileptic encephalopathies are Dravet syndrome
2017/08/09 by Lynette G. Sadleir, Emily I. Mountier, Emily Mountier +354 · 3 citations
Medicine · Biochemistry, Genetics and Molecular Biology · #Epilepsy research and treatment #Genomics and Rare Diseases #Genetics and Neurodevelopmental Disorders
- DECIPHER: Supporting the interpretation and sharing of rare disease phenotype‐linked variant data to advance diagnosis and research
2022/02/10 by Julia Foreman, Simon Brent, Daniel Perrett +7 · 1 citation
Biochemistry, Genetics and Molecular Biology · #Biomedical Text Mining and Ontologies #Cancer Genomics and Diagnostics #Genomics and Rare Diseases