Matthew Coleman
Murdoch Children's Research Institute Bruce Lefroy Centre for Genetic Health Research
14 papers found
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Ectopic HCN4 Provides a Target Biomarker for the Genetic Spectrum of mTORopathies
Download from doi.orgThe clinical, imaging, pathological and genetic landscape of bottom-of-sulcus dysplasia
UploadInfantile‐onset myoclonic developmental and epileptic encephalopathy: A new RARS2 phenotype
Download from onlinelibrary.wiley.comAssociation of SLC32A1 Missense Variants With Genetic Epilepsy With Febrile Seizures Plus
UploadTranscriptome analysis of a ring chromosome 20 patient cohort
Download from onlinelibrary.wiley.comGermline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome
UploadSevere childhood speech disorder
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