Melanie Bahlo
The Walter and Eliza Hall Institute of Medical Research
33 papers found
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Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 40
UploadAmpSeqR: an R package for amplicon deep sequencing data analysis
Download from f1000research.comHeterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25
UploadEvidence for a Dual-Pathway, 2-Hit Genetic Model for Focal Cortical Dysplasia and Epilepsy
Download from doi.orgProgressive Myoclonus Epilepsies
Download from doi.orgDeletions in VANGL1 are a risk factor for antibody-mediated kidney disease
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