Melanie Bahlo
The Walter and Eliza Hall Institute of Medical Research
41 papers found
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Progressive Myoclonus Epilepsies
Download from doi.orgDeletions in VANGL1 are a risk factor for antibody-mediated kidney disease
UploadInfantile‐onset myoclonic developmental and epileptic encephalopathy: A new RARS2 phenotype
Download from onlinelibrary.wiley.comClonal multi-omics reveals Bcor as a negative regulator of emergency dendritic cell development
UploadAssociation of SLC32A1 Missense Variants With Genetic Epilepsy With Febrile Seizures Plus
UploadComparative genomics revealed adaptive admixture in Cryptosporidium hominis in Africa
Download from doi.orgTranscriptome analysis of a ring chromosome 20 patient cohort
Download from onlinelibrary.wiley.comInfanticide vs. inherited cardiac arrhythmias
Download from academic.oup.comReanalysis and optimisation of bioinformatic pipelines is critical for mutation detection
Download from api.wiley.comSIS-seq, a molecular 'time machine', connects single cell fate with gene programs
UploadRecent advances in the detection of repeat expansions with short-read next-generation sequencing
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