Ingrid Scheffer
Florey Institute of Neuroscience and Mental Health
33 papers found
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Evidence for a Dual-Pathway, 2-Hit Genetic Model for Focal Cortical Dysplasia and Epilepsy
Download from doi.orgInfantile‐onset myoclonic developmental and epileptic encephalopathy: A new RARS2 phenotype
Download from onlinelibrary.wiley.comNEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns
Download from www.nature.comDevelopmental and epilepsy spectrum of KCNB1 encephalopathy with long‐term outcome
UploadReanalysis and optimisation of bioinformatic pipelines is critical for mutation detection
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